- Type of:
-
inborn error of metabolism
any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
-
autosomal recessive defect, autosomal recessive disease
a disease caused by the presence of two recessive mutant genes on an autosome
-
lipidosis
a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
