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Pyruvate Carboxylase Deficiency Disease MeSH Descriptor Data 2022


MeSH Heading
Pyruvate Carboxylase Deficiency Disease
Tree Number(s)
C10.228.140.163.100.725
C16.320.565.189.725
C16.320.565.202.810.666
C18.452.132.100.725
C18.452.648.189.725
C18.452.648.202.810.666
C18.452.660.705
Unique ID
D015324
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D015324
Scope Note
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)
Entry Version
PYRUVATE CARBOXYLASE DEFIC DIS
Entry Term(s)
Ataxia with Lactic Acidosis 2
Ataxia with Lactic Acidosis II
Ataxia with Lactic Acidosis, Type II
Deficiency Disease, Pyruvate Carboxylase
Lactic Acidosis with Ataxia, Type II
Pyruvate Carboxylase Deficiency
Type II Ataxia with Lactic Acidosis
Previous Indexing
Pyruvate Carboxylase/deficiency (1974-1988)
See Also
Pyruvate Carboxylase
Public MeSH Note
2000; see PYRUVATE CARBOXYLASE DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
History Note
2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
Date Established
1991/01/01
Date of Entry
1988/06/01
Revision Date
2013/07/08
Pyruvate Carboxylase Deficiency Disease Preferred
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