Our findings in family A (i.e., MPS I), reported a homozygous sequence variant (c.871G>A; A291T) in GALNS. The gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. This evidence concerns the gene GALNS and Scheie syndrome.