What does pyruvate carboxylase deficiency disease mean?
Definitions for pyruvate carboxylase deficiency disease
pyru·vate car·boxy·lase de·fi·cien·cy dis·ease
This dictionary definitions page includes all the possible meanings, example usage and translations of the word pyruvate carboxylase deficiency disease.
Wikipedia
pyruvate carboxylase deficiency disease
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations.
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)
Numerology
Chaldean Numerology
The numerical value of pyruvate carboxylase deficiency disease in Chaldean Numerology is: 7
Pythagorean Numerology
The numerical value of pyruvate carboxylase deficiency disease in Pythagorean Numerology is: 2
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"pyruvate carboxylase deficiency disease." Definitions.net. STANDS4 LLC, 2024. Web. 27 Apr. 2024. <https://www.definitions.net/definition/pyruvate+carboxylase+deficiency+disease>.
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