methylmalonic aciduria & homocystinuria

Pathology

• decreased adenosylcobalamin & methylcobalmin

Genetics

• associated with defects in MMACHC

Laboratory

• increased methylmalonate in urine & homocystine in urine

More general terms

• methylmalonic acidemia/aciduria
• homocystinuria

Database

• OMIM: https://mirror.omim.org/entry/277400