Morquio-ullrich's disease an inborn error of metabolism?

Abstract

The clinical and biochemical findings in three Greenlandish siblings with Morquio-Ullrich's disease are presented. The appearance and the radiological changes are similar to the findings in Morquio- Brailsford's disease, but in addition the three 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.