Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036572 (
seizures
)
80,221
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:[A mild variant case of maple syrup urine disease]. 199 96
