Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

Preferred Label : Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency;

Symbol : MAMM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic acidemia due to methylmalonyl-coa mutase deficiency; Methylmalonic aciduria, mut type; Mma due to mcm deficiency;

Included titles and symbols : Methylmalonic aciduria, mut(0) type; Methylmalonic aciduria, mut(-) type;

Description : Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (251100), caused by mutation in the MMAA gene (607481) on chromosome 4q31, and cblB (251110), caused by mutation in the MMAB gene (607568) on 12q24. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), and cblF (277380). See the comprehensive review of Ledley (1990).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methylmalonyl-CoA mutase gene (MUT, 251000.0001);

Laboratory abnormalities : Normal serum cobalamin; Metabolic ketoacidosis; Hyperammonemia; Hyperglycinemia; Methymalonicaciduria; Methylmalonyl-CoA mutase deficiency; Low plasma free and total carnitine;

Prefixed ID : #251000;

Details

Origin ID

251000;

UMLS CUI

C1855114;

Automatic exact mappings (from CISMeF team)
- methylmalonic aciduria, mut(-) type [MeSH concept]
- methylmalonic aciduria, mut(0) type [MeSH concept]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [NCIt concept]
- Partial deficiency of methylmalonyl-CoA mutase [ICD-11 More detail]
- Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) [SNOMED CT concept]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 [ORDO Disease]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH concept]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH Supplementary Concept]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]
DO Cross reference
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]
Genes related to phenotype
- Methylmalonyl-coa mutase [OMIM gene]
HPO term(s)
- Abnormal globus pallidus morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar hemorrhage [HPO term]
- Chronic renal failure [HPO term]
- Coma [HPO term]
- Dehydration [HPO term]
- Delayed CNS myelination [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperglycinemia [HPO term]
- Hypotonia [HPO term]
- Lethargy [HPO term]
- Leukopenia [HPO term]
- Metabolic ketoacidosis [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Neonatal or infantile metabolic ketoacidosis [HPO term]
- Pancreatitis [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thrombocytopenia [HPO term]
- Tubulointerstitial nephritis [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Abnormal vitamin B12 level [HPO term]
ORDO concept(s)
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 [ORDO Disease]
See also inter- (CISMeF)
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [NCIt concept]
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 [ORDO Disease]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH Supplementary Concept]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH concept]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]

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