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methylmalonic acidemia with homocystinuria, type cblJ

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.
Mondo Term and Equivalent IDs
MONDO:0013925:  methylmalonic acidemia with homocystinuria, type cblJ
GARD:0012621: 
Orphanet:369955: 
UMLS:C3553915: