Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

Abstract

The clinical and biochemical findings in 3 Greenlandish siblings with Morquio-Ullrich''s disease are presented. The appearance and the radiological changes are similar to the find-ings in Morquio-Brailsford''s disease, but in addition the 3 siblings were severely mentally retarded and had an abnormal excretion of acid mucopolysaccharides in the urine. The parents were closely related. The disease seems to be due to a recessively inherited enzymatic defect.