Identification of heterozygous carriers of gargoylism

SummaryThe carbazole and naphthoresorcinol methods for hexuronic acid determination have been used to characterize the partially purified acid mucopolysaccharides obtained from urine of normal persons, from patients with gargoylism and from their relatives. The results, expressed as a ratio of carbazole to naphthoresorcinol hexuronic acid, demonstrated a similar abnormal qualitative excretion of chondroitin sulfate B by patients with gargoylism. by one or both parents, and by some of their other relatives. Occurrence of an abnormal qualitative excretion of chondroitin sulfate B in the clinically normal relatives of patients with gargoylism probably indicates the heterozygous carrier state of the disease.