Late onset of distinct neurologic syndromes in galactosemic siblings.
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.
Friedman
J H
JH
Roger Williams General Hospital, Brown University, Providence, RI 02908.
Levy
H L
HL
Boustany
R M
RM
D000328:Adult; D001072:Apraxias / Q000209:etiology; D002526:Cerebellar Diseases / Q000209:etiology; D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology*; D012640:Seizures / Q000209:etiology; D013997:Time Factors