A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. [ NCIT:C98986 ]
Synonyms: methylmalonic aciduria
Term information
- UMLS:C0268583 (NCIT:C98986)
- DOID:14749 (MONDO:equivalentTo)
- SCTID:42393006 (MONDO:equivalentTo)
- ICD9:270.7 (MONDO:relatedTo)
- MESH:C537358 (MONDO:equivalentTo)
- NCIT:C98986 (MONDO:equivalentTo)
- ICD10CM:E71.120 (MONDO:equivalentTo)
rare, inferred_rare
http://purl.obolibrary.org/obo/DOID_14749
http://linkedlifedata.com/resource/umls/id/C0268583
http://purl.obolibrary.org/obo/NCIT_C98986
http://purl.bioontology.org/ontology/ICD10CM/E71.120
http://identifiers.org/mesh/C537358
http://identifiers.org/snomedct/42393006
methylmalonic acidemia, cblA type
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type
METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A
methylmalonic aciduria mut type
methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type
methylmalonic aciduria cblB type
methylmalonic aciduria, mut type
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B
methylmalonic acidemia, cblB type
methylmalonic aciduria type cblB
methylmalonic aciduria type cblA
METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency