| 单词 | Type II Ataxia with Lactic Acidosis |
| 释义 | Type II Ataxia with Lactic Acidosis《英文msh词典》Type II Ataxia with Lactic Acidosis [入口词] Type II Ataxia with Lactic Acidosis [主题词] Pyruvate Carboxylase Deficiency Disease [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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