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:C0085584 (
encephalopathy
)
18,178
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ten patients with biotin-dependent, chronic progressive encephalopathies were studied retrospectively. In four patients, the underlying disease was either total or partial deficiency of biotinidase. In one patient, the disease was caused by a lack of
holocarboxylase synthetase
activity. Four patients presented with Leigh
encephalopathy
. However, a biochemical defect could not always be confirmed. All patients required the administration of large doses of biotin to maintain normal neurologic function.
...
PMID:The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. 772 84
