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Preferred Name

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Synonyms

METHYLMALONIC ACIDURIA, mut(-) TYPE
ID

http://purl.bioontology.org/ontology/OMIM/251000
altLabel

METHYLMALONIC ACIDURIA, mut(-) TYPE

METHYLMALONIC ACIDURIA, mut(0) TYPE

METHYLMALONIC ACIDURIA, mut TYPE

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

MMA DUE TO MCM DEFICIENCY
cui

C1855114

C1855115

C1855116
Gene Locus

6p21
Gene Symbol

MMUT

MCM

MUT
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU004228

http://purl.bioontology.org/ontology/OMIM/MTHU011513

http://purl.bioontology.org/ontology/OMIM/MTHU011503

http://purl.bioontology.org/ontology/OMIM/MTHU011501

http://purl.bioontology.org/ontology/OMIM/MTHU011507

http://purl.bioontology.org/ontology/OMIM/MTHU011505

http://purl.bioontology.org/ontology/OMIM/MTHU067737

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000177

http://purl.bioontology.org/ontology/OMIM/MTHU008843

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU067681

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU011506

http://purl.bioontology.org/ontology/OMIM/MTHU036763

http://purl.bioontology.org/ontology/OMIM/MTHU011123

http://purl.bioontology.org/ontology/OMIM/MTHU003881

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU011508

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU011502
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

251000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Scope Statement

mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase [MISCELLANEOUS]

Caused by mutation in the methylmalonyl-CoA mutase gene (MMUT, 609058.0001) [MOLECULAR BASIS]

Incidence of 1/50,000 births [MISCELLANEOUS]

mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (AdoCbl) [MISCELLANEOUS]
tui

T047
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