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

maleylacetoacetate isomerase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder.
Mondo Term and Equivalent IDs
MONDO:0060527:  maleylacetoacetate isomerase deficiency
UMLS:C1291607: