pyruvate carboxylase deficiency disease

Preferred Label : pyruvate carboxylase deficiency disease;

MeSH definition : 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);

MeSH synonym : ataxia with lactic acidosis, type ii; type ii ataxia with lactic acidosis; deficiency disease, pyruvate carboxylase; lactic acidosis with ataxia, type ii; Ataxia with Lactic Acidosis 2; pyruvate carboxylase deficiency; deficiency, pyruvate carboxylase; ataxia with lactic acidosis II;

CISMeF synonym : carboxylase deficiencies, pyruvate; carboxylase deficiency, pyruvate; deficiencies, pyruvate carboxylase; pyruvate carboxylase deficiencies;

Wikipedia link : https://en.wikipedia.org/wiki/Pyruvate carboxylase deficiency disease;

Details

Origin ID

D015324;

UMLS CUI

C0034341;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category]
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [ICD-11 Sub-sub category]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency disease [DO Concept]
- pyruvate decarboxylase deficiency [DO Concept]
DO Cross reference
- pyruvate carboxylase deficiency disease [DO Concept]
Has phenotype(s) (HPO)
- Neuronal loss [HPO term]
Manual NTBT mappings (CISMeF)
- Gluconeogenesis disorder [ORDO Disease]
MeSH Descriptor(s) used for indexing
- pyruvate carboxylase [MeSH Descriptor]
ORDO relation(s)
- Pyruvate carboxylase deficiency [ORDO Disease]
Record concept(s)
- pyruvate carboxylase deficiency disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency [MeSH Supplementary Concept]
See also
- pyruvate carboxylase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pyruvate Carboxylase Deficiency [NCIt concept]
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency [OMIM Phenotype]
- Pyruvate carboxylase deficiency [PASCAL descriptor]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- Pyruvate carboxylase deficiency (disorder) [SNOMED CT concept]
- pyruvate carboxylase deficiency [SNOMED Notion]
- pyruvate carboxylase deficiency [Disease (Nov.)]
- pyruvate carboxylase deficiency disease [DO Concept]

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