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)
We studied the activity of
glutamate dehydrogenase
(
GDH
) in leukocytes from 23 patients with dominantly inherited ataxia. All the patients were assessed with a rating scale for ataxias and met the clinical criteria for the diagnosis of
Machado-Joseph disease
. The mean age of onset of symptoms was 37.8, SD 13.4 years and the duration of the disease was 7.4, SD 4.9. Leukocyte
GDH
activity was significantly decreased (p < 0.001) when compared to 20 normal controls. These data extend previous reports indicating that a
GDH
deficiency is present in peripheral tissues from some patients with spinocerebellar degenerations. Furthermore, this study suggests that a genetic deficiency of
GDH
may underlie some forms of dominant ataxias; this deficiency may be marked in patients with
Machado-Joseph disease
and is not specific for any type of multiple system atrophy.
...
PMID:Glutamate dehydrogenase deficiency in Machado-Joseph disease. 833 77
