MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 2 페이지: 1
Pyruvate Carboxylase - 새창
A biotin-dependent enzyme belonging to the ligase family that catalyzes the addition of CARBON DIOXIDE to pyruvate. It is occurs in both plants and animals. Deficiency of this enzyme causes severe psychomotor retardation and ACIDOSIS, LACTIC in infants. EC 6.4.1.1.
Synonyms : Carboxylase, Pyruvate
Pyruvate Carboxylase Deficiency Disease - 새창
An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Synonyms : Deficiency Disease, Pyruvate Carboxylase, Type II Ataxia with Lactic Acidosis
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MeSH(Medical Subject Headings) 유사 검색 (http://www.nlm.nih.gov) 결과 : 0 페이지: 1
