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: EC:1.4.1.2 (
glutamate dehydrogenase
)
4,380
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Deficiency of glutamate dehydrogenase appears to be associated with a chronic progressive degenerative disorder manifesting parkinsonian extrapyramidal features, ataxia, supranuclear oculomotor dysfunction, a
peripheral neuropathy
and, in some cases, amyotrophy. The clinical features resemble those of the Dejerine-Thomas type of olivopontocerebellar atrophy. The data suggest autosomal dominant inheritance with low penetrance. Measurement of leukocyte
glutamate dehydrogenase
should be routinely performed in the evaluation of newly diagnosed or atypical cases of parkinsonism.
...
PMID:Glutamate dehydrogenase deficiency in patients with olivopontocerebellar atrophy. 668 27
