Pyruvate carboxylase deficiency

Preferred Label : Pyruvate carboxylase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pc deficiency; Leigh syndrome due to pyruvate carboxylase deficiency; Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency; Ataxia with lactic acidosis II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pyruvate carboxylase gene (PC, 608786.0001);

Laboratory abnormalities : Increased serum ammonia (Group B); Increased serum lactate; Increased serum pyruvate; Increased serum alanine; Hypoglycemia; Increased lactate: pyruvate ratio (Group B); A subset of Group B patients have absence of PC protein and mRNA; Decreased pyruvate carboxylase (PC) activity (less than 5%); Intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (Group B)); Increased serum citrulline (Group B); Increased acetoacetate: beta-hydroxybutyrate ratio (Group B); Presence of PC mRNA; Immunoreactive PC protein; Increased serum lysine (Group B);

Prefixed ID : #266150;

Details

Origin ID

266150;

UMLS CUI

C0034341;

Automatic exact mappings (from CISMeF team)
- Disorders of pyruvate metabolism and gluconeogenesis [ICD-10 Sub-category (who)]
- Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency [MeSH concept]
- Pyruvate carboxylase deficiency [MedDRA Preferred Term]
- leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency [MeSH Supplementary Concept]
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 [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 carboxylase deficiency disease [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate decarboxylase deficiency [DO Concept]
DO Cross reference
- pyruvate carboxylase deficiency disease [DO Concept]
Genes related to phenotype
- Pyruvate carboxylase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Clonus [HPO term]
- Congenital onset [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperalaninemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Intellectual disability [HPO term]
- Lactic acidosis [HPO term]
- Leukodystrophy [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in the cerebral cortex [HPO term]
- Periventricular leukomalacia [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Pyruvate carboxylase deficiency [ORDO Disease]
- Pyruvate carboxylase deficiency, benign type [ORDO Disease]
- Pyruvate carboxylase deficiency, infantile type [ORDO Disease]
- Pyruvate carboxylase deficiency, severe neonatal type [ORDO Disease]
See also inter- (CISMeF)
- pyruvate dehydrogenase complex deficiency disease [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 [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 [MeSH Descriptor]
- pyruvate carboxylase deficiency disease [MeSH concept]
- pyruvate carboxylase deficiency disease [DO Concept]

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