MUCOPOLYSACCHARIDOSIS IV; MORQUIO A SYNDROME

Disease	MUCOPOLYSACCHARIDOSIS IV; MORQUIO A SYNDROME
Synonym	MPS4A
OMIM	253000 OMIM = Online Mendelian Inheritance of Men
Orphanet	309297
Protein (UniProt)	N-acetylgalactosamine-6-sulfatase
ExPASy	3.1.6.4
Gene locus	16q24.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Galactosamine (N-acetyl)-6-sulfate sulfatase
ICD	E76.2
Summary	rare (1:300000) autosomal recessive MUCOPOLYSACCHARIDOSIS IV: Type A: severe form Type B: milder form
Laboratory findings	Chondroitin-6-sulfate normal/inc (urine) Glycosaminoglycans, total normal/inc (urine) Keratan sulfate normal/inc (urine) Mucopolysaccharides inc (urine) N-Acetylgalactosamin-6-sulfate sulfatase dec (fibroblasts)
Symptoms	chest deformity coarse facial features corneal clouding corneal deposits dental caries dwarfism dysostosis multiplex genu valgum growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hydrops fetalis hypoplastic enamel (thin) infections (severe or recurrent) inguinal hernia joint hypermobilty, dislocations, laxity joint laxity liver involvement or dysfunction myopathy normal at birth onset, childhood osteoporosis prominent lower face restrictive lung disease short neck short stature short trunk skeletal changes, skeletal abnormalities skoliosis, kyphoskoliosis Teeth: generalized defect or abnormalities valvular heart disease vertebral changes or anomalies voice alterations X-ray, abnormalities