Methylmalonic aciduria, cbla type

Preferred Label : Methylmalonic aciduria, cbla type;

Symbol : MACA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic acidemia, cbla type; Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type;

Description : Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (251110), which is caused by mutation in the MMAB gene (607568) on 12q24. See also cblH (277410), which may be a subset of cblA. The 'mut' form of MMA (251000) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), cblF (277380), and cblJ (614857).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MMAA gene (MMAA, 607481.0001);

Laboratory abnormalities : Methylmalonic acidemia; Methylmalonic aciduria; Long-chain ketonuria; Hyperglycinemia; Hyperammonemia; Decreased adenosylcobalamin (AdoCbl); Normal serum cobalamin (vitamin B12); Decreased methylmalonyl-CoA mutase (MUT, 609058) activity;

Prefixed ID : #251100;

Details

Origin ID

251100;

UMLS CUI

C1855109;

Automatic exact mappings (from CISMeF team)
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria cblA type [MeSH concept]
- Vitamin B12 responsive methylmalonic aciduria type cbl A [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
- methylmalonic acidemia cblA type [DO Concept]
- methylmalonic aciduria cblA type [MeSH Supplementary Concept]
DO Cross reference
- methylmalonic acidemia cblA type [DO Concept]
Genes related to phenotype
- Metabolism of cobalamin associated a [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methylmalonyl-CoA mutase activity [HPO term]
- Dehydration [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperglycinemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Ketonuria [HPO term]
- Ketosis [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Thrombocytopenia [HPO term]
- Tremor [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Abnormal vitamin B12 level [HPO term]
ORDO concept(s)
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria cblA type [MeSH concept]
- Vitamin B12 responsive methylmalonic aciduria type cbl A [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
- methylmalonic acidemia cblA type [DO Concept]
- methylmalonic aciduria cblA type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients