Patients with inborn errors of metabolism provide a unique opportunity to document normal human systems, by allowing us to note the defections which occur when certain (presumably single-gene) processes are selectively handicapped. The strategic role of various structural lipids has been diagrammed by examining the patient with a lipidosis who inadequately performs certain key reactions because of hereditary handicap (eg, amaurotic familial idiocy [Tay-Sachs disease], with abnormal ganglioside metabolism).
We can now use some of the same retrospective physiologic reasoning to investigate the mucopolysaccharides, by reviewing the problems incurred by patients with Hurler-Hunter syndrome. In these children, one finds a rather constant basic group of clinical defects, reasonably presumed to be the result of misdirected mucopolysaccharide metabolism, as noted in a communication in a recent issue of the American Journal of Diseases of Children.1 These defects, apparently of both intracellular and extracellular nature in some instances, involve cartilage, connective
HURLER-HUNTER PHENOTYPES. JAMA. 1967;199(4):271. doi:10.1001/jama.1967.03120040081018