Details of Disease | DrugMAP

General Information of Disease (ID: DISMWLB2)

Disease Name	Vitamin B12-unresponsive methylmalonic acidemia type mut-
Synonyms	vitamin B12-unresponsive methylmalonic aciduria type mut-; partial deficiency of methylmalonyl-CoA mutase
Definition	Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Disease Hierarchy	DISFKMDJ: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency DISMWLB2: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Disease Identifiers	MONDO ID MONDO_0019267 UMLS CUI C0342719 MedGen ID 575192 Orphanet ID 79312 SNOMED CT ID 237946002

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	Supportive	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	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.