The Galactosemias: Classic and Clinical Variant Galactosemia/Duarte Variant Galactosemia/Galactokinase Deficiency/ Epimerase Deficiency
Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term “galactosemia” literally means too much galactose in the blood. The different types of galactosemia include classic and clinical variant galactosemia (sometimes called Type 1 galactosemia) and Duarte variant galactosemia that result from mutations in the gene encoding the enzyme galactose-1-phosphate uridylyltransferase (GALT), galactokinase deficiency (sometimes called Type 2 galactosemia) that results from mutations in the gene encoding the enzyme galactokinase (GALK), and epimerase deficiency (sometimes called Type 3 galactosemia) that results from mutations in the gene encoding the enzyme UDP-galactose 4’-epimerase (GALE).
What are Classic and Clinical Variant Galactosemia?
Classic and clinical variant galactosemia are rare genetic metabolic disorders. The patient with classic galactosemia carries deleterious mutations in both copies of their GALT gene so that their blood shows essentially no detectable residual GALT activity. The patient with clinical variant galactosemia also carries deleterious mutations in both copies of their GALT gene, but one or both mutations leave a small amount of residual GALT activity. In the vast majority of cases, the GALT mutations in classic and clinical variant galactosemia are inherited so that both parents of an affected child are carriers. Rare exceptions occur. Patients with classic galactosemia are sometimes described as having the genetic makeup "G/G." When a person who does not have galactosemia consumes food containing lactose (e.g., dairy products such as milk, cheese, butter), their body breaks down the lactose into galactose and glucose, and then further metabolizes both of these sugars. The human body also is able to make “endogenous” galactose. When a person with galactosemia consumes food containing lactose or galactose they are not able to fully metabolize the galactose, so it can build up in their cells and tissues. Galactose that is synthesized in the body may also build up. Other molecules derived from galactose, such as galactose-1-phosphate (Gal-1P), galactitol, and galactonate, may also build up in the cells and tissues of patients with galactosemia, especially if they are consuming high levels of dietary lactose or galactose. Untreated, classic and clinical variant galactosemia are potentially lethal disorders. If an affected infant continues to drink milk the baby may develop symptoms that progress in days from jaundice, vomiting, and diarrhea, to liver disease and failure to thrive, and eventually to E. coli sepsis, which can be fatal.
Diagnosis is made usually within the first weeks of life in follow-up to newborn screening, which is a blood test from a heel prick offered to all newborns in the United States and many other countries. Treatment for classic or clinical variant galactosemia requires the immediate and strict exclusion of lactose/galactose from the baby’s diet. This is usually accomplished by switching the baby from drinking breast milk or a milk-based formula to drinking a low galactose formula, such as soy or elemental formula. Even with early diagnosis and careful restriction of lactose/galactose from the diet, however, patients with classic and clinical variant galactosemia remain at increased risk for long-term complications that include speech and language, fine and gross motor skill delays and specific learning or cognitive and behavioral disabilities. Some patients experience many of these complications; others do not. Primary or premature ovarian insufficiency is also very common among girls and women with classic and clinical variant galactosemia. Prenatal diagnosis by genetic or biochemical testing is available.
- More information about diagnosis, intervention, and outcomes in classic and clinical variant galactosemia can be found at: http://www.ncbi.nlm.nih.gov/books/NBK1518/
What is Duarte Variant Galactosemia?
Duarte variant galactosemia, sometimes called just Duarte galactosemia or “DG,” is much more common than classic or clinical variant galactosemia in many populations and also results from mutations in the GALT gene. However, instead of carrying severe mutations in both copies of their GALT gene, patients with Duarte variant galactosemia carry one GALT copy with a severe (G) mutation and a second GALT copy that is only very mildly impaired and that shows a collection of characteristic sequence changes that classify it as “Duarte” (also called D or D2). A child with Duarte variant galactosemia therefore generally has one parent who is a carrier for a severe (G) GALT mutation, and one parent who is a carrier for the Duarte variant. Patients with Duarte variant galactosemia usually show about 25% the normal level of GALT activity in red blood cells. Newborns with Duarte variant galactosemia may not show any symptoms, such as jaundice, while drinking milk. Experts therefore disagree about whether infants with Duarte variant galactosemia should be put on a lactose/galactose restricted diet, and no one knows whether older children or adults with Duarte variant galactosemia are at increased risk for long-term complications. Reported studies give mixed or inconclusive results, so that more research is needed to answer the question. If long-term developmental complications do occur in patients with Duarte variant galactosemia they are generally believed to be milder than those experienced by patients with classic galactosemia. Also, girls and women with Duarte variant galactosemia are not believed to be at risk for premature ovarian insufficiency.
Newborns with Duarte variant galactosemia may or may not be detected by the same newborn screening test that detects classic or clinical variant galactosemia. Specifically, some newborn screening protocols are designed to detect Duarte variant galactosemia, while others do not. Receiving a “normal” newborn screening result for galactosemia therefore may not rule out a diagnosis of Duarte variant galactosemia.
- More information about diagnosis, intervention, and outcomes in Duarte variant galactosemia can be found at: http://www.ncbi.nlm.nih.gov/books/NBK258640/
What is Galactokinase Deficiency Galactosemia?
Galactokinase deficiency results from inheritance of deleterious mutations in the human GALK1 gene leading to loss of galactokinase (GALK) enzyme activity. Like patients with loss of GALT activity, patients missing GALK activity cannot fully metabolize galactose so that if they consume a diet high in lactose/galactose they will accumulate high levels of galactose and galactose metabolites including galactitol and presumably galactonate, though this metabolite is rarely measured. Unlike patients who are missing GALT activity, patients with galactokinase deficiency do not accumulate high levels of Gal-1P because GALK is the enzyme that synthesizes Gal-1P.
Galactokinase deficiency is very rare in many populations and is not detected by many newborn screening programs so that long-term follow-up studies of large numbers of patients diagnosed with galactokinase deficiency have been difficult to conduct. Because those patients with galactokinase deficiency studied were ostensibly well as infants, except for cataracts that self-resolved following dietary galactose restriction, loss of galactokinase was believed to be relatively benign regardless of diet. That assumption was challenged in 2011 when Hennermann and colleagues (J Inherit Metab Dis (2011) 34:399–407) reported the identification and follow-up of 18 patients with galactokinase deficiency detected in Germany by newborn screening between 1991 and 2010. Almost half of these patients were of Romani ancestry, a population believed to have significantly increased prevalence of GALK deficiency relative to other populations studied.
What was striking about these patients is that despite their early detection, of the 16 who were old enough to be evaluated, 31% demonstrated what was described as "mental retardation" attributed to "poor compliance" with dietary galactose restriction. The negative outcomes noted did not associate with consanguinity in these families. This result raises the strong possibility that accumulation of galactose metabolites, other than Gal-1P, in these patients contributed to their increased risk of intellectual disability.
Newborns with galactokinase deficiency may or may not be detected by the newborn screening test for galactosemia. Specifically, some newborn screening protocols are designed to detect galactokinase deficiency, while others are not. Receiving a “normal” newborn screening result for galactosemia therefore may not rule out a diagnosis of galactokinase deficiency.
What is Epimerase Deficiency Galactosemia?
Epimerase deficiency results from inheritance of deleterious mutations in the human GALE gene leading to partial loss of UDP-galactose 4’-epimerase (GALE) enzyme activity. Like patients with loss of GALT or GALK activity, patients with impaired GALE activity cannot fully metabolize galactose. However, unlike patients with classic galactosemia or galactokinase deficiency, all patients with epimerase deficiency reported to date exhibit only partial loss of enzyme activity. Studies from a fruit fly model of GALE loss (Sanders et al, Disease Models and Mechanisms 2010, 3(9-10):628-38) demonstrated that complete loss of GALE activity was lethal early in embryonic development, perhaps explaining why all live-born patients with epimerase deficiency show the presence of at least some residual GALE activity.
Patients with impaired GALE activity may be categorized as having one of three forms of epimerase deficiency: (1) generalized epimerase deficiency which results from profound but not complete loss of GALE activity, (2) intermediate epimerase deficiency which results from partial but not profound loss of epimerase activity in multiple tissues, and (3) peripheral epimerase deficiency which results from loss of epimerase activity only in some cell types (e.g. red blood cells) but not in others (e.g. lymphoblasts or liver). In terms of clinical severity, generalized epimerase deficiency is similar to classic galactosemia, peripheral epimerase deficiency is generally considered benign, and intermediate epimerase deficiency is of unknown clinical significance. Generalized epimerase deficiency is extremely rare; other forms of epimerase deficiency may be much more common, especially in specific populations. Because many newborn screening programs do not detect epimerase deficiency, the exact prevalence in most populations remains unknown.
Newborns with epimerase deficiency may or may not be detected by the newborn screening test for galactosemia. Specifically, some newborn screening protocols are designed to detect epimerase deficiency, while others are not. Receiving a “normal” newborn screening result for galactosemia therefore may not rule out a diagnosis of epimerase deficiency.
- More information about diagnosis, intervention, and outcomes in epimerase deficiency can be found at: http://www.ncbi.nlm.nih.gov/books/NBK51671/
History of Galactosemia
Galactosemia was first "discovered" in 1908. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and "galactosuria". This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia.
By 1917, "galactosuria" was a broadly recognized inherited disorder and was treated by removal of milk products from the diet.
The disease was first recognized and described in detail (ie published work) in 1935 by Mason and Turner. Leloir worked out the metabolic pathway and the process of sugar-nucleotides and won the Nobel prize in Chemistry in 1970 for his work. He and coworkers elucidated the pathway for converting galactose to glucose in the early 50's.
Although, the clinicians recognized galactosemia very early in the century, the defective gene that caused it wasn't found until 1956. Another major break-through was when it was first found to be detectable through a newborn screening method in 1963. This method was developed by Guthrie and Paigen. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie.
Sources of Diet Guidelines
Unfortunately, the classic galactosemic diet is a controversial one. Different clinics, doctors, and parents follow different rules. Below is a list of diet guides that some parents follow. You can get these guides from your doctor/clinic/nutritionist. Please check with your own clinic for diet advice. It is important to follow your own doctor's advice, because what one clinic recommends for diet may not be what another recommends. We understand the frustration this brings and this is why we encourage all parents to gather as much information as they can, work with their clinic, so that they can make the best possible decision they can for their own child.
1) Understanding Galactosemia A Diet Guide
Linda Gleason, MS, RD
Matthew Rasberry, RD
Sandy van Calcar, PhD, RD
Download "Understanding Galactosemia A Diet Guide" (PDF)
2) A Guide for the Family of the Child With Galactosemia
The Ross Metabolic Formula System, Ross Laboratories
Medical Editor: Phyllis B. Acosta, Dr. PH, RD
Galactosemia Food Information Cooperative Web Site
A web site created and maintained by parents of children with galactosemia for parents of children with galactosemia. This site contains information contributed by many parents who deal with the galactosemic diet on a daily basis. It is not a replacement for label reading, but it can certainly reduce the amount of time hunting for products in the grocery store aisles. Includes sections on acceptable manufactured foods, menus, recipes, manufacturer contact information, and even a section on suggestions for various holidays. Check it out, then send in YOUR contributions !!
Galactosemia Diet Resources from University of Colorado Inherited Metabolic Diseases Nutrition Department
There are books and educational material about the galactosemia diet available for purchase from the University of Colorado Inherited Metabolic Diseases Nutrition Department. These materials are intended for Health Care Professionals and families of children with classical galactosemia. The following is a description of the books, which can be ordered directly from the University of Colorado through their order form. Download "Galactosemia Order Form" (PDF)
Note - the material on the Galactosemia Food Information Cooperative Website was not created by Galactosemia Foundation.
Galactosemia: The Diet
The purpose of this book is to review the sources of galactose in the diet, describe which foods are included in the diet, and provide tips for healthy eating while on a galactose-restricted diet. The dietary recommendations presented in this booklet are intended for all ages. During infancy, the foods on the Acceptable Foods and Ingredient List can be introduced at an appropriate age to begin solids. It is not necessary to wait until a child is older to introduce allowed foods.
Galactosemia: School Age Children
This book is intended for parents with school age children who have been diagnosed with galactosemia due to a deficiency of the enzyme galactose-1-phosphate uridyltransferase or GALT. This book will provide helpful information to make the transition to school and eating away from home.
Galactosemia: For New Parents
This book is intended for parents with infants who have been diagnosed with galactosemia due to a deficiency of the enzyme galactose-1-phosphate uridyltransferase or GALT. This book will provide an overview of the diagnosis and familiarize you with the diet for galactosemia.
Galactosemia: Making Healthy Choices Activity Book
This tool is used to increase learning about calcium, vitamin D, fats, fiber, ingredient identification, nutrition facts, and more.
Galactosemia: Making Healthy Choices Cookbook
This cookbook contains recipes and educational information about the galactosemia diet.
Other Diet Links
To view the Other Diet Links please review our disclaimer agreement.
WARNING TO PARENTS OF GALACTOSEMIC CHILDREN ABOUT DIETS FOR LACTOSE INTOLERANT PATIENTS:
Some diets for Lactose Intolerant patients allow foods with small amounts of lactose as many lactose intolerant individuals may ingest small amounts of lactose without clinical signs. NO GALACTOSEMIC PATIENT SHOULD EVER INGEST ANY AMOUNT OF LACTOSE!!! Lactose Intolerant Links are included here as they have good tips on dairy free diets, cookbooks, food allergy links, product recalls etc. As always you should read labels before you feed anything to your galactosemic child. IF YOU ARE CONFUSED ABOUT INGREDIENTS/FOOD ITEMS, DO NOT FEED THE ITEM TO YOUR GALACTOSEMIC CHILD. Consult your physician and/or dietician for questions you may have.
Lactose intolerance (not to be confused with galactosemia) is the inability to digest significant amounts of lactose, the predominant sugar of milk. This inability results from a shortage of the enzyme Beta Galactosidase (Lactase), which is normally produced by the cells that line the small intestine. Lactase breaks down milk sugar into simpler forms (galactose and glucose) that can then be absorbed into the bloodstream. When there is not enough lactase to digest the amount of lactose consumed, the results, although not usually dangerous for lactose intolerant patients, may be very distressing and include intestinal gas, bloating and diarrhea.
Children with "Classical Galactosemia" do not have measurable activity of the enzyme Galactose-1-Phosphate Uridyl Transferase which ultimately converts galactose-1-phosphate to glucose. GALACTOSEMIC CHILDREN MAY NOT USE LACTASE ENZYME REPLACER such as Lactaid or Dairy Ease and then have lactose containing products. Lactaid and Dairy Ease (Lactase) break down lactose into the components glucose and galactose which would be absorbed. Galactosemic children can not metabolize a galactose load because of their deficiency of the enzyme Galactose-1-Phosphate Uridyl Transferase. REMEMBER, NO GALACTOSEMIC CHILD MAY HAVE ANY LACTOSE CONTAINING PRODUCTS. THERE IS NO ENZYME REPLACEMENT THERAPY FOR GALACTOSEMIA. Again, consult your physician and/or dietician for questions you may have.
Websites of InterestFeeding Children with Special Needs
designed to provide resources for Child Nutrition Program providers, teachers and parents of children with special feeding needs
Manufacturers of Dairy Free & or Parve Products
Illinois Nut Company & Fantasia Chocolates, Inc.
Hand-Made Chocolates, Fresh Nuts, Candies & Dried Fruits
3745 West Dempster Street
Skokie, Illinois 60076
Fax (847) 677-5778
They have many chocolate items that are parve.
Since actual products change on a regular basis it is imperative that you re-read every label every time you buy. Various parents and dietitians have put together this list of unacceptable ingredients in an attempt to simplify the ingredient dilemma.
Please, remember to always check with your clinic and dietitian. Gather all information available and then make your own decision.
FOOD INGREDIENTS WHICH ARE UNACCEPTABLE IN THE DIET FOR GALACTOSEMIA:
- Nonfat Milk
- Nonfat Dry Milk
- Milk Chocolate
- Buttermilk Solids
- Nonfat Dry Milk Solids
- Milk Derivatives
- Dried Cheese
- Milk Solids
- Sour Cream
- Dry Milk
- Whey and Whey Solids
- Dry Milk Protein
- Organ Meats (liver, heart, kidney brains, sweetbreads, pancreas)
- Sodium Caseinate
- Calcium Caseinate
- Tragacanth Gum
- Dough Conditioners*
- Hydrolyzed Protein**
- MSG (Monosodium Glutamate)****
- Soy Sauce*****
NOTE: Lactate, Lactic acid and Lactylate do not contain lactose and are acceptable ingredients.
* Dough Conditioners may include caseinates which are UNACCEPTABLE. Most labels specify the name of the conditioner which is added to the product. If not, contact the company to make sure that all are acceptable.
** Hydrolyzed protein is UNACCEPTABLE and is commonly found in canned meats, like tuna. Hydrolyzed vegetable protein, however, is acceptable.
*** A few diet margarine's do not contain milk. Check labels before using any brand. If "margarine" is listed as an ingredient in any processed food, consider the product UNACCEPTABLE.
**** MSG or Monosodium Glutamate itself is acceptable; however, some MSG's contain lactose extenders. It is best to avoid MSG whenever possible.
***** Soy sauce is UNACCEPTABLE if it is fermented. Brands must be checked before including this in the galactosemic diet.
Given the necessary restriction on dairy items in the galactosemic diet, parents sometimes wonder whether their galactosemic child is getting sufficient calcium.
Ask your doctor or clinic what the recommended calcium intake is for your child. If your child sees a nutritionist, you may ask him/her to perform a three-day diet analysis to determine if your child is getting enough calcium (as well as other nutrients).
There are a number of natural food sources of calcium among the foods acceptable for a galactosemic diet. If you are advised to increase your child's daily intake of calcium, it may be best to try to increase these natural sources in your child's diet before turning to supplements.
Advice on calcium supplements varies from clinic to clinic. Below is a list of calcium supplements that some parents are using. Keep in mind that this list just represents some of the types of calcium supplements given to children with galactosemia and is NOT an endorsement for any of the products. As with anything, check labels carefully (for restricted ingredients) and always check with your own doctor/clinic before giving any supplement to your child. Keep in mind companies frequently change ingredients in their products.
- Tums - some are still using, although there has been talk about Tums being bad for tooth enamel among other things
- Centrum Vitamins - "Bone Health" - suppose to be lactose and dairy-free (It is like a regular vitamin)
- CalQuick (Twin Labs) - liquid calcium supplement (600 mg/tablespoon)
- Liquid Cal Mag+ (KAL) (600 mg/tablespoon)
- Multi-vitamins with extra calcium
Keep in mind that there are different forms of calcium used in supplements (e.g. calcium carbonate, calcium phosphate, calcium citrate, calcium gluconate, etc.). Some forms of calcium are thought to be more easily absorbed into the body than others. Another factor to consider is that levels of calcium in the blood may not always indicate the actual calcium used by the body to increase bone density. Ask your nutritionist for advice on this matter.
Calcium recommendations vary depending on age and special needs. In addition, levels of estrogen can affect calcium needs in women. Note: Calcium requires adequate Vitamin D to be absorbed into the body
Galactose Contents in Food
Galactosemia Foundation Recipe Book
We have put together a lot of great recipes. You can download our recipe book here.
A cataract is a clouding of the lens of the eye. The lens is a crystal-clear, flexible structure near the front of the eyeball. It helps to keep vision in focus, and screens and refracts light rays. The lens has no blood supply. It is nourished by the vitreous (the watery substance that surrounds it). Cataracts may form in one or both eyes. If they form in both eyes, their growth rate may be very different. Cataracts are not cancerous.
Appropriate health care includes treatment by an ophthalmologist or surgery to remove the lens.
Cataracts are one of the possible complications of classic galactosemia. Cataracts are mostly observed in newborns but can also occur in adults. It is thought that 10-30% of newborns with classic galactosemia develop cataracts in the first few days or weeks of life. Once a newborn is put on a galactose-restricted diet, cataracts usually clear up on their own. Surgery is sometimes necessary in rarer cases.
It is believed that if the galactose restricted diet is followed, cataracts do not develop in galactosemic children.
Many patients have eye examinations to check for the presence of cataracts on a regular basis. More frequent during the first year of life (e.g every 3-4 months), such exams can be reduced in frequency (e.g. 1 or 2 times a year) in older children. It is a good idea to have an eye exam if for some reason Gal-1-P levels are observed to rise above a 'target' range.
A learning disability is a disorder that interferes with a person's ability to master a skill (such as reading, writing, arithmetic concepts, etc.). Learning disabilities can show up in many ways such as, specific difficulties with spoken and written language, coordination, self-control, or attention.
Learning disabilities can be lifelong conditions that, in some cases, affect many parts of a person's life: school or work, daily routines, family and social life. Some people, may have overlapping learning disabilities. Other people may have a single, isolated learning problem that has little or no impact on other areas of their lives. Also, some individuals can manage, or even overcome, learning diabilities with focused therapy or specialized instruction, and/or medication.
It is important to know that not all learning problems are necessarily learning disabilities. Many children are simply slower in developing certain skills. Because children show natural differences in their rate of development, sometimes what seems to be a learning disability may simply be a delay in maturation. By law, learning disability is defined as a significant gap between a person's intelligence and the skills the person has achieved at each age.
(Source: NIMH -National Institute of Mental Health - for more information see their web page at www.nimh.nih.gov)
Learning Disabilities and Galactosemia:
Although know one really knows exactly why, there have been some specific learning disabilities associated with classic galactosemia. (note - there have been no learning disabilities positively associated with Duarte Galactosemia). Even some children who were diagnosed relatively quickly after birth and who are following the "restricted diet" have developed learning disabilities. Some of the learning disabilities associated with galactosemia include: speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading in school. Unfortunately, there are no firm numbers to quantify the percentage of galactosemics who experience learning disabilites.
It is important to know that not all children with galactosemia have learning disabilities. Because many galactosemic children do have problems, it is something very important to be aware of in observing a child's development.
One aspect of learning disabilities and galactosemia that is important for parents to keep in mind is that neurological impairments (e.g. fine motor difficulties) can sometimes present themselves "disguised" as a learning disability. For example, a child with trouble writing numerals or pointing may appear to have a learning disability with regard to arithmetic concepts, when the case may well be that the child understands the math concept just fine, but simply cannot control his/her writing sufficiently well enough to demonstrate mastery of the concept. It is important to note that a child may in fact have both problems.
How do I know if my child has a learning disability? (Ages 0 - 3)
Because every child develops differently, this can be a difficult question to answer. Your child's pediatrician should be your first source of information. He or she should be able to, with your input, notice any signs of problems in your child's development. Be sure to inform your doctor of the types of problems that have been associated with galactosemia. (Because galactosemia is very rare, your doctor may know very little, if anything, about galactosemia). If he/she knows what to "look for", it can be very helpful to him/her. Also, sometimes parents know best, so if you suspect a problem, and your doctor does not agree with you, get a second opinion. Research shows that the earlier a problem is treated, the better it is for the child. Remember to keep in mind that children develop at different rates - learning disability is defined as a significant gap between a person's intelligence and the skills the person has achieved at each age.
What kind of services should I get for my child if I suspect a developmental problem or learning disability?
Many local school systems offer free programs for young children (infants and toddlers) as well as for older children. You can call your local school system to ask for an evaluation for your child and/or to ask that your child be put into a program that would be appropriate for him. If you are unable to get services form you local school system, try a private therapist/teacher or institution. Some medical insurance companies may pay for all or part of these services. Check with your own policy.
Some helpful WWW resources:
National Institute of Mental Health - NIMH
(This site contains a great deal of information about learning disabilities.)
(This site contains an interactive guide to learning disabilities for parents, teachers, and children.)
National Center for Learning Disabilities
"The National Center for Learning Disabilities provides national leadership in support of children and adults with learning disabilities by providing information, resources, and referral services; developing and supporting innovative educational programs, seminars, and workshops; conducting a public awareness campaign; and advocating for more effective policies and legislation to help individuals with learning disabilities"
Learning Disabilities Association
"Our purpose is to advance the education and general welfare of children and adults of normal or potentially normal intelligence who manifest disabilities of a perceptual, conceptual or coordinative nature".
A link to web articles about IEP's
You'll find hundreds of articles, cases, newsletters, and other information about special education law and advocacy in the Wrightslaw Libraries. Parents, advocates, educators, and attorneys come to Wrightslaw for accurate, up-to-date information about advocacy for children with disabilities.
College Resources for Disabled Students
Prospective college students with disabilities will find that many campuses are equipped with offices and services that address accessibility, accommodation, and assistive technology for a diverse range of needs
Along with well documented speech and language disorders, neurodevelopmental delays are also sometimes observed in galactosemic patients. By some estimates, galactosemics experience trouble with gait, balance, and fine motor tremors in anywhere from 13 to 20 %.
In one study, 45 individuals with galactosemia were examined. In that study, 12 individuals were observed to have neurological symptoms that included ataxia, tremors, and dysmetria.
Ataxia is a total or partial inability to coordinate voluntary bodily movements (as in walking, etc.).
Tremors are rhythmic, involuntary muscular contractions characterized by oscillations (to-and-fro movements) of a part of the body. The most common of all involuntary movements, tremor can affect various body parts such as the hands, head, facial structures, vocal cords, trunk, and legs; most tremors, however, occur in the hands. Although the disorder is not life-threatening, it can be responsible for functional disability and social embarrassment. There are different types of tremors. One type is Kinetic or Intention tremor which occurs during purposeful goal-oriented tasks, for example finger-to-nose testing.
Dysmetria is improper estimation of distance during muscular activity. Dysmetria includes both hypo- and hypermetria. With hypermetria, voluntary muscular movement overreaches the intended goal; with hypometria, voluntary movement falls short of the intended goal. Hypermetria is more commonly recognized than hypometria.
If you suspect that your child may be exhibiting symptoms of any of these conditions, consult your child's medical professional and alert them to the possibility that such a condition may be related to galactosemia. Treatment for these conditions include various types of phyical therapy and/or medications.
Primary Ovarian Insufficiency (POI)
A majority of girls/women who have classic galactosemia experience Primary Ovarian Insufficiency. However, there are women with classic galactosemia who have successfully conceived and given birth. To date, the reason for the high rate of ovarian failure is not known. Talk with your child's geneticist to get the latest information about this issue. There are some tests (hormone level testing) which may be performed to check the condition of the ovaries.
(Note: There is no evidence that galactosemia has any negative effect on the reproductive health of boys.)
The Premature Ovarian Failure Support Group
The goal of this group is to offer support and information to women who have been diagnosed with Premature Ovarian Failure.
Places Women At Risk for Bone Loss: "Premature ovarian failure (formerly known as premature menopause), increases a woman's risk of bone loss, according to a study by researchers at the National Institute of Child Health and Human Development (NICHD)."
The first successful pregnancy using donated eggs was reported in 1984 in Australia. Eggs were taken from a fertile donor, and replaced into the uterus of a woman with ovarian failure, after being fertilized ...
It is believed that approximately, 60% of classic galactosemic children have speech problems. Problems range from mild to moderate or severe. One type of speech disorder that has been associated with classic galactosemia is apraxia of speech, often referred to as dyspraxia. Dyspraxia is not a developmental delay of speech. It is considered a "motor speech disorder".
Verbal dyspraxia is defined below:
Verbal Dyspraxia: A sensory motor disorder of articulation characterized by impaired capacity to plan the positioning of speech musculature and muscle movements for the production of speech sounds.
While it is primarily an articulation disorder, there are a number of other related communication problems associated with dyspraxia, such as: problems of syntax (word order), language organization, and pragmatics (set of rules governing conversation). (note-Reading, writing, spelling, and spatial awareness can also be affected.)
If you suspect that your child has this disorder, or some other speech problem, have your child evaluated as soon as possible. The sooner speech therapy is started for a child who needs it, the better. Hearing tests are usually performed first to rule out any kind of hearing impairment. If your child's hearing has been checked, and a hearing problem has been ruled out as a cause for speech problems, have your child evaluated by a qualified speech pathologist. You may be able to find a qualified speech pathologist through your local school system (early intervention program.) If you suspect dyspraxia, be sure to find a speech language pathologist who is qualified, and has experience with diagnosing and treating a motor speech disorder (or oral motor function disorder). To find out more about dyspraxia and what things to consider in getting a speech evaluation, the following web sites describes much more in detail.
- Speech Disorder Web Links
- Developmental Verbal Apraxia
- Apraxia-Kids (A comprehensive information site about childhood apraxia of speech.)
As a resource for those newly diagnosed with Galactosemia we have an outreach team.
Please contact them to learn more about how we can help.