Details of Disease

General Information of Disease (ID: DIS2GC8D)

• Disease Name: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
• Synonyms: methylmalonic aciduria III, formerly; methylmalonic aciduria III; methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency; methylmalonyl-Coa racemase deficiency; methylmalonyl-CoA epimerase deficiency; methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency; methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency; methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency; methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency; MCEE deficiency
• Definition: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
• Disease Hierarchy:
  DISHY8VB: Methylmalonic acidemia
  DIS2GC8D: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009615
  MESH ID: C565386
  UMLS CUI: C1855100
  OMIM ID: 251120
  MedGen ID: 344419
  Orphanet ID: 308425

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCEE	OTTJP3GM	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.