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.
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)
| Descriptor ID |
D015324
|
| MeSH 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
|
| Concept/Terms |
Pyruvate Carboxylase Deficiency Disease- Pyruvate Carboxylase Deficiency Disease
- Ataxia with Lactic Acidosis II
- Ataxia with Lactic Acidosis, Type II
- Lactic Acidosis with Ataxia, Type II
- Pyruvate Carboxylase Deficiency
- Deficiency, Pyruvate Carboxylase
- Type II Ataxia with Lactic Acidosis
- Ataxia with Lactic Acidosis 2
- Deficiency Disease, Pyruvate Carboxylase
|
Below are MeSH descriptors whose meaning is more general than "Pyruvate Carboxylase Deficiency Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Pyruvate Carboxylase Deficiency Disease [C16.320.565.189.725]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
- Pyruvate Carboxylase Deficiency Disease [C16.320.565.202.810.666]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Pyruvate Carboxylase Deficiency Disease [C18.452.132.100.725]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Pyruvate Carboxylase Deficiency Disease [C18.452.648.189.725]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Pyruvate Metabolism, Inborn Errors [C18.452.648.202.810]
- Pyruvate Carboxylase Deficiency Disease [C18.452.648.202.810.666]
- Mitochondrial Diseases [C18.452.660]
- Pyruvate Carboxylase Deficiency Disease [C18.452.660.705]
Below are MeSH descriptors whose meaning is more specific than "Pyruvate Carboxylase Deficiency Disease".
This graph shows the total number of publications written about "Pyruvate Carboxylase Deficiency Disease" by people in this website by year, and whether "Pyruvate Carboxylase Deficiency Disease" was a major or minor topic of these publications.
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Below are the most recent publications written about "Pyruvate Carboxylase Deficiency Disease" by people in Profiles.
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Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms. Pediatr Neurol. 1989 Jul-Aug; 5(4):249-52.
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The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab. 1977 Dec; 45(6):1281-96.