Details of Disease

General Information of Disease (ID: DISXEKO2)

• Disease Name: Vitamin B12-responsive methylmalonic acidemia
• Synonyms: adenosylcobalamin deficiency; vitamin B12-responsive methylmalonic aciduria
• Definition: Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
• Disease Hierarchy:
  DISTUC4M: Inborn disorder of cobalamin metabolism and transport
  DISCXXVK: Classic organic aciduria
  DISHY8VB: Methylmalonic acidemia
  DISXEKO2: Vitamin B12-responsive methylmalonic acidemia
• Disease Identifiers:
  MONDO ID: MONDO_0017214
  UMLS CUI: C0342720
  MedGen ID: 575193
  Orphanet ID: 28
  SNOMED CT ID: 69614003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMAA	OTMAVZVO	Strong	Genetic Variation	[1]
MMAB	OTOWOEJN	Strong	Genetic Variation	[2]

References

• [1] Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.Cell Mol Biol Lett. 2016 Jul 28;21:4. doi: 10.1186/s11658-016-0005-1. eCollection 2016.
• [2] Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.Mol Genet Metab. 2004 Aug;82(4):329-33. doi: 10.1016/j.ymgme.2004.05.002.