Details of Disease

General Information of Disease (ID: DISZR2TF)

Disease Name Vitamin B12-unresponsive methylmalonic acidemia type mut0
Synonyms complete deficiency of methylmalonyl-CoA mutase; vitamin B12-unresponsive methylmalonic aciduria type mut0
Definition
Vitamin B12-unresponsive methylmalonic acidemia type mut0 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
DISZR2TF: Vitamin B12-unresponsive methylmalonic acidemia type mut0
Disease Identifiers
MONDO ID
MONDO_0017360
UMLS CUI
C0342718
MedGen ID
575191
Orphanet ID
289916
SNOMED CT ID
237945003

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 Isolated Methylmalonic Acidemia. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.