| MUCOLIPIDOSIS II | |
| I CELL DISEASE | |
|
252500
OMIM = Online Mendelian Inheritance of Men | |
|
576 | |
| N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| rare autosomal recessive mutation in the GNPTAB gene relatively common disorder in Japan | |
| Laboratory findings | Arylsulfatase A inc (serum/fibroblasts) beta-Hexosaminidase inc (serum/fibroblasts) Glycosaminoglycans, total inc (urine) Iduronate sulfatase inc (serum/fibroblasts) UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine dec (fibroblasts) |
| Symptoms | cardiomyopathy coarse facial features contractures, joints corneal clouding cortical or cerebral atrophy gingiva, hyperplastic hepatomegaly (large liver) hernia hip dysplasia, hip dyslocation hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder motor retardation myelination, incomplete, hypomyelination otitis media, recurrent speech development, delayed, abnormal splenomegaly (large spleen) valvular heart disease bone fractures cardiac involvement, cardiac defects cardiomegaly cardiomyopathy, hypertrophic constipation corneal deposits developmental delay diarrhea dwarfism dysmorphism early death failure to thrive hearing defect, deafness hemangioma hydrops fetalis macroglossia, large/protuding tongue mental retardation MRI, brain, abnormalities [-] onset, infancy onset, neonatal osteoporosis pneumonia psychomotor retardation skin, thickened skoliosis, kyphoskoliosis small for gestational age (SGA), intrauterine growth retardation (IUGR) umbilical hernia voice alterations |