Acid mucopolysaccharide excretion in a family of patients with gargoylism

ABSTRACT

Gargoylism is a hereditary disorder of acid mucopolysaccharide metabolism and is associated with elevated urinary levels of total AMPS. This was confirmed in 9 of 40 members of a family, spread over three generations, in which there were three members with gargoylism. In other family with two children affected, the mother and 3 siblings were found to have elevated excretion of AMPS. Elevation in th excretion of AMPS in the direct ascendants and family of patients with gargoylism justified their qualification as heterozygous carriers of the gargoylism disease trait (AU)