Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We discuss siblings with galactose-1-phosphate uridyl transferase deficiency who developed neurologic complications after the age of 30. One has partial complex seizures and the other has generalized seizures, progressive ataxia, and apraxia. As more galactosemic children survive into adulthood, more neurologic complications may become more prevalent.
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PMID:Late onset of distinct neurologic syndromes in galactosemic siblings. 271 Mar 67

Classical galactosaemia is caused by deficient galactose-1-phosphate uridyl transferase activity, and is treated by dietary galactose restriction. Despite dietary treatment, long-term outcomes have not been uniformly favourable. Late complications may include speech abnormalities, ataxia, cognitive impairment, growth delay, bone alterations and ovarian failure. We report an infant whose erythrocyte galactose 1-phosphate (gal-1-P) levels remained well above the treatment range on a low-galactose (soy) formula. Once she was begun on an elemental formula (galactose-free), gal-1-P levels decreased rapidly to within the treatment range. Urine galactitol levels decreased on the elemental formula but were within published treatment ranges despite treatment changes. These did not correlate with the gal-1-P levels. This case suggests further study be considered to determine whether a truly galactose-free diet in infancy could alter the long-term prognosis of classical galactosaemia.
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PMID:Galactosaemia: early treatment with an elemental formula. 1587 5