| MULTIPLE SULFATASE DEFICIENCY (MSD) | |
| SULFATIDOSIS, JUVENILE, AUSTIN TYPE; SULFATASE DEFICIENCY, MULTIPLE | |
|
272200
OMIM = Online Mendelian Inheritance of Men | |
|
585 | |
| multiple sulfatases may be deficient | |
| rare (~50 cases) autosomal recessive mutation in the sulfatase-modifying factor-1 gene (SUMF1) | |
| Laboratory findings | 15-Hydroxyeicosatetraenoic acid inc (urine) Arylsulfatase A normal/dec (fibroblasts) Arylsulfatase B normal/dec (fibroblasts) Arylsulfatase C normal/dec (fibroblasts) Glycosaminoglycans, total inc (urine) Heparan-N-sulfamidase normal/dec (fibroblasts) Iduronide-2-sulfate sulfatase normal/dec (fibroblasts) N-Acetylgalactosamin-6-sulfate sulfatase normal/dec (fibroblasts) N-Acetylglucosamine-6-sulfate sulfatase normal/dec (fibroblasts) Protein, total inc (cerebrospinal fluid) Sulfatide inc (urine) Taurocholic acid inc (urine) |
| Symptoms | apnea ataxia blindness, visual loss, visual impairment broad thumbs cerebellar atrophy or hypoplasia cerebral atrophy cherry-red spot on retinal macula coarse facial features corneal clouding cyanosis defect of walking, running, rising or climbing developmental delay dysmorphism dysostosis multiplex gait disturbance great toes growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hydrocephalus hypotonia ichthyosis joint stiffness leukodystrophy mental retardation motor retardation myelination, incomplete, hypomyelination Nerve conductive velocity, slow neurological deterioration onset, childhood onset, infancy onset, neonatal optic atrophy progressive neurologic defect retinal or macular degeneration seizures short stature skeletal changes, skeletal abnormalities spastic diplegia/quadriplegia/tetraplegia splenomegaly (large spleen) swallowing difficulties |