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:C0030552 (
paresis
)
5,831
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A partial deficiency of
pyruvate decarboxylase
(
PDC
) was demonstrated in a child with hyperlactatemia and progressive ataxia, bulbar
paresis
, ophthalmoplegia, and polyneuropathy. Subacute necrotizing encephalomyelopathy (SNE) was found at necropsy. The association of SNE and
PDC
deficiency has been reported rarely, but a review of the diverse metabolic defects associated with SNE suggests that decreased
PDC
activity may be the common feature of SNE.
...
PMID:Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy. 724 88
