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methylmalonic aciduria & homocystinuria
Pathology:
- decreased adenosylcobalamin & methylcobalmin
Genetics:
- associated with defects in MMACHC
Laboratory:
- increased methylmalonate in urine & homocystine in urine
General
methylmalonic acidemia/aciduria
homocystinuria
Database Correlations
OMIM 277400
References
OMIM :accession 277400