Details of Disease

General Information of Disease (ID: DIS5921T)

• Disease Name: Methylmalonic aciduria and homocystinuria
• Synonyms: methylmalonic acidemia and homocystinemia; methylmalonic aciduria with homocystinuria; combined defect in adenosylcobalamin and methylcobalamin synthesis
• Definition: An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
• Disease Hierarchy:
  DISTUC4M: Inborn disorder of cobalamin metabolism and transport
  DISCXXVK: Classic organic aciduria
  DISHY8VB: Methylmalonic acidemia
  DISQL71U: Inherited deficiency anemia
  DISK3N1S: Homocystinuria
  DIS5921T: Methylmalonic aciduria and homocystinuria

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
ZNF143	OTW39W2I	Moderate	Autosomal recessive	[1]
THAP11	OTEMWLZ0	Limited	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.