About The Medical Condition Pyruvate Carboxylase Deficiency Disease
Find the definition of the medical term Pyruvate Carboxylase Deficiency Disease. Pyruvate Carboxylase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Pyruvate Carboxylase Deficiency Disease
| Pyruvate Carboxylase Deficiency Disease Medical Condition |
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What's The Definition Of The Medical Condition Pyruvate Carboxylase Deficiency Disease?
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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