Pathway
Defective MMACHC causes MAHCC
Defects in MMACHC cause methylmalonic aciduria and homocystinuria type cblC (MMAHCC; MIM:277400). MMAHCC is the most common disorder of cobalamin metabolism and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, haematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings.
REACT:R-HSA-3359474Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective MMACHC causes MAHCC · Sources: Reactome
- MMACHC participates in Defective MMACHC causes MAHCCProteinReactome R-HSA-3359474Inferred only