| MUCOPOLYSACCHARIDOSIS VI; MAROTEAUX-LAMY SYNDROME | |
| MPS6 | |
|
253200
OMIM = Online Mendelian Inheritance of Men | |
|
583 | |
| Arylsulfatase B | |
| 3.1.6.12 | |
| rare (1:200000) autosomal recessive mutation in the ARSB gene | |
| Laboratory findings | Dermatan sulfate inc (urine) Glycosaminoglycans, total inc (urine) Mucopolysaccharides inc (urine) N-Acetylgalactosamin-4-sulfate sulfatase dec (fibroblasts) |
| Symptoms | apnea blindness, visual loss, visual impairment cardiomegaly cardiomyopathy carpal tunnel syndrome chest deformity coarse facial features contractures, joints corneal clouding corneal deposits dysmorphism dysostosis multiplex glaucoma growth retardation, poor growth hearing defect, deafness heart failure, cardiac failure hepatomegaly (large liver) hirsutism hydrocephalus hypertrichosis infections (severe or recurrent) inguinal hernia joint stiffness macrocephaly (large calvaria, >2 SD for age) macroglossia, large/protuding tongue myelopathy onset, childhood short stature skin, thickened skoliosis, kyphoskoliosis splenomegaly (large spleen) umbilical hernia valvular heart disease X-ray, abnormalities |