What does pyruvate carboxylase deficiency disease mean?

Definitions for pyruvate carboxylase deficiency disease

Here are all the possible meanings and translations of the word pyruvate carboxylase deficiency disease.

U.S. National Library of Medicine

  1. 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)


  1. Chaldean Numerology

    The numerical value of pyruvate carboxylase deficiency disease in Chaldean Numerology is: 7

  2. Pythagorean Numerology

    The numerical value of pyruvate carboxylase deficiency disease in Pythagorean Numerology is: 2

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