The adult galactosemic phenotype.

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Classic galactosemia results from galactose-1-phosphate uridyltransferase (GALT) deficiency, an autosomal recessive disorder.
• Newborn screening and early treatment do not fully prevent neurological and endocrine complications, including tremor, speech deficits, diminished IQ, and premature ovarian insufficiency (POI).

Purpose of the Study:

• To evaluate the long-term clinical outcomes and disease progression in adults with classic galactosemia.
• To identify associations between age, genotype, clinical features, and laboratory measures in this population.

Main Methods:

• A cohort of 33 adults (mean age 32.6 years) with confirmed classic galactosemia and undetectable GALT enzyme activity were assessed.
• Evaluations included neurological examinations, cognitive assessments, and analysis of clinical and laboratory data.

Main Results:

• Adults with galactosemia exhibited a high prevalence of cataracts, low bone density, tremor, dysarthria, depression, and anxiety.
• Mean full-scale IQ was 88, and all women were diagnosed with premature ovarian insufficiency (POI).
• Age and genotype were not associated with neurological deficits or IQ, but older age correlated with increased odds of depression.

Conclusions:

• The study does not support the hypothesis that galactosemia is a progressive neurodegenerative disorder in adults.
• Increased attention to mental health issues, specifically depression and anxiety, and social support is recommended to improve the quality of life for adults with galactosemia.