X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With Hyperuricemia

Abstract

Summary A pedigree of a heritable metabolic disorder of uric acid overproduction indicated an x-linked recessive mode of inheritance. Affected members had mental and motor retardation, a gravel-like consistency to the urine on diapers, athetoid movements with opisthotonus, and self-mutilation. Female carriers appeared to be hyperexcretors of uric acid.