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Pyruvate Carboxylase Deficiency Disease

"Pyruvate Carboxylase Deficiency Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information
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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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This graph shows the total number of publications written about "Pyruvate Carboxylase Deficiency Disease" by people in Harvard Catalyst Profiles by year, and whether "Pyruvate Carboxylase Deficiency Disease" was a major or minor topic of these publication.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 1995
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.