| 单词 | Ataxia with Lactic Acidosis,Type II |
| 释义 | Ataxia with Lactic Acidosis,Type II《英文msh词典》Ataxia with Lactic Acidosis,Type II [同义词] Ataxia with Lactic Acidosis,Type II [主题词] Pyruvate Carboxylase Deficiency Disease [中文释义] Ⅱ型乳酸性酸中毒性共济失调 [英文释义] 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) |
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