Details of Disease

General Information of Disease (ID: DISFKMDJ)

Disease Name Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Synonyms
vitamin B12-unresponsive methylmalonic acidemia; MCM deficiency; methylmalonic aciduria, mut(0) type; methylmalonic aciduria, mut type; methylmalonic aciduria, mut(-) type; methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency; methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; methylmalonyl-CoA mutase deficiency; methylmalonyl-Coenzyme A mutase deficiency; vitamin B12-unresponsive methylmalonic aciduria
Definition
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
Disease Hierarchy
DISCXXVK: Classic organic aciduria
DISHY8VB: Methylmalonic acidemia
DISFKMDJ: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Disease Identifiers
MONDO ID
MONDO_0009612
MESH ID
C565390
UMLS CUI
C1855114
OMIM ID
251000
MedGen ID
344424
Orphanet ID
27

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MMUT TTCQ21Y Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MMUT OTBBBV70 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.