Mitochondrial pyruvate carrier deficiency

Preferred Label : Mitochondrial pyruvate carrier deficiency;

Symbol : MPYCD;

CISMeF acronym : MPYCD;

Type : Phenotype, molecular basis known;

Description : Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the brain protein 44-like gene (BRP44L, 614738.0001);

Laboratory abnormalities : Increased serum lactate; Increased serum pyruvate; Normal lactate:pyruvate ratio; Impaired oxidation of pyruvate; Organic aciduria;

Prefixed ID : #614741;

Details

Origin ID

614741;

UMLS CUI

C3553607;

Currated CISMeF NLP mapping
- Mitochondrial pyruvate carrier deficiency [ORDO Disease]
- Mitochondrial pyruvate carrier deficiency (disorder) [SNOMED CT concept]
- mitochondrial pyruvate carrier deficiency [DO Concept]
DO Cross reference
- mitochondrial pyruvate carrier deficiency [DO Concept]
Genes related to phenotype
- Mitochondrial pyruvate carrier 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Encephalopathy [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Lactic acidosis [HPO term]
- Long philtrum [HPO term]
- Organic aciduria [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive microcephaly [HPO term]
- Respiratory distress [HPO term]
- Rotary nystagmus [HPO term]
- Seizure [HPO term]
- Thin upper lip vermilion [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Mitochondrial pyruvate carrier deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial Pyruvate Carrier Deficiency [NCIt concept]
- Mitochondrial pyruvate carrier deficiency (disorder) [SNOMED CT concept]

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