[A mild variant case of maple syrup urine disease].
We reported a mild variant case of maple syrup urine disease. He was unable to walk alone at 2 years of age and developed seizures and intermittent ataxia at 5 years of age. Activity of 1-14C-leucine decarboxylase in fibroblasts revealed 40% of normal activity in the boy and 90% in the mother. MRI showed hypo-myelination of white matter and mild atrophy of brain stem and cerebellum. Dietary treatment was not effective for ataxia and brain atrophy.
Ishikawa
A
A
Department of Pediatrics, Sapporo City General Hospital.
Okayasu
T
T
Miyasaka
K
K
Fukushima
N
N
Takase
A
A
Wagatsuma
Y
Y
D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D003711:Demyelinating Diseases / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007532:Isoleucine / Q000378:metabolism; D007930:Leucine / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*
D007532:Isoleucine; D007930:Leucine