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:C0022716 (
Menkes
)
1,057
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A male infant with an atypical form of
Menkes
kinky hair disease showed mitochondrial NADH-CoQ reductase (
complex I)
deficiency in a femoris muscle biopsy. His clinical features consisted of hypotonicity of the upper limbs, hyper-reflexia of the lower extremities, abnormal hair and fine myoclonic movement of the hands. The serum levels of copper and ceruloplasmin were just below normal range, and the copper concentration in fibroblastic cells was much increased (101.2 ng/mg of protein). The occurrence of this case suggests that there may be a mild form of
Menkes disease
with a NADH-CoQ reductase deficiency or other mitochondrial enzyme defects.
...
PMID:Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency. 245 75
