Definitions for pyruvate carboxylase deficiency disease
This page provides all possible meanings and translations of the word pyruvate carboxylase deficiency disease
U.S. National Library of Medicine
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)
Find a translation for the pyruvate carboxylase deficiency disease definition in other languages:
Select another language:
Discuss these pyruvate carboxylase deficiency disease definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"pyruvate carboxylase deficiency disease." Definitions.net. STANDS4 LLC, 2015. Web. 22 May 2015. <http://www.definitions.net/definition/pyruvate carboxylase deficiency disease>.