You are using an outdated browser. Please upgrade your browser to improve your experience.

methylmalonate semialdehyde dehydrogenase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
Mondo Term and Equivalent IDs
MONDO:0013579:  methylmalonate semialdehyde dehydrogenase deficiency
MESH:C566402: 
Orphanet:289307: 
UMLS:C3279840: