Children and Youth with Special Health Needs (CYSHN)
GALACTOSEMIA
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Condition Description
Galactosemia is an inborn error of metabolism that classically presents in newborns with liver dysfunction, hypoglycemia, hypotonia, cataract, intellectual disabilities, and early death. There are also milder forms of the disorder.
A child with galactosemia can’t break down galactose (a sugar found in milk and milk products). The body breaks down galactose into the energy it needs. Children with galactosemia are unable to break down galactose, so it builds up in the body and becomes toxic to the brain and other organs.
Treatment
People with galactosemia must not eat galactose and lactose. All milk and foods that have milk in them must be avoided. The diet excludes cow’s milk, human breast milk, and dairy products like cheese, and yogurt as well as foods containing whey, casein, and curds. Soy milk is given instead. Because the diet is so restrictive, monitoring by adults is required at home and at school. The treatment and required specialist follow-up are life-long.
Range of Outcomes
- With newborn screening most infants are found pre-symptomatically and placed on a lactose-restricted diet. In spite of treatment, affected children experience decreased IQ with most in the low normal range, but with some having intellectual disabilities as described in 2006 by Bosch in review of the literature. Antschel demonstrated poor executive function and word retrieval difficulties on controlled neuropsychological testing on a group of 25
- affected children with IQ's averaging 84.3.
- Speech and language difficulties are reported in
- 60% of affected children. Since 1991 Nelson and others have observed that the most common speech disorder in galactosemia, verbal dyspraxia, responds to intervention.
For More Information
This fact sheet was developed for use in determining eligibility for early intervention services only. For more complete information, the following resources might be useful:
MedlinePlus
MedlinePlus brings together authoritative information from NLM, the National Institutes of Health (NIH), and other government agencies and health-related organizations. Preformulated MEDLINE searches also give access to medical journals.
http://medlineplus.gov/
GeneReviews
Information on genetic testing and genetic disorders is available in the GeneReview section of the GeneTest website. www.genetests.org
References
Antshel, KM, Epstein, IO, Waisbren, SE, Cognitive Strengths and Weaknesses in Children and Adolescents Homozygous for the
Galactosemia Q188R Mutation: A Descriptive Study. Neuropsychology 2004, 18 (4): 658-664.
Bosch, AM, Classical Galactosaemia Revisited. J Inherit Metab Dis. 2006 Aug; 29(4):516-25.
Nelson,CD, et al, Verbal Dyspraxia in Treated Galactosemia. Pediatrics 1991; 88;346-350
