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Mukolipidose Typ III alpha/beta

Which enzymes are involved?

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Disease	MUCOLIPIDOSIS III ALPHA/BETA
Synonym	PSEUDO-HURLER POLYDYSTROPHIA
OMIM	252600 OMIM = Online Mendelian Inheritance of Men
Orphanet	423461
Protein (UniProt)	N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Gene locus	12q23.2
ICD	E77.0
Summary	rare autosomal recessive
Laboratory findings	Arylsulfatase A inc (serum/fibroblasts) beta-Hexosaminidase inc (serum/fibroblasts) Glycosaminoglycans, total normal/inc (urine) Iduronate sulfatase inc (serum/fibroblasts) UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine dec (fibroblasts)
Symptoms	acne aortic valvular disease behavior, self-mutilating or destructive cardiomyopathy carpal tunnel syndrome coarse facial features contractures, joints corneal clouding corneal deposits dwarfism dysostosis multiplex hearing defect, deafness hip dysplasia, hip dyslocation hypertrichosis joint stiffness macroglossia, large/protuding tongue mental retardation myelination, incomplete, hypomyelination neuropathy onset, childhood osteodystrophy retinopathy short stature skeletal changes, skeletal abnormalities skin, thickened valvular heart disease X-ray, abnormalities