multiple carboxylase deficiency : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Multiple Carboxylase Deficiency - 새창 A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Synonyms : Carboxylase Deficiency, Combined, Deficiency, Combined Carboxylase, Deficiency, Multiple Carboxylase, Carboxylase Deficiencies, Combined, Carboxylase Deficiencies, Multiple, Combined Carboxylase Deficiencies, Deficiencies, Combined Carboxylase