| SIALIDOSIS TYPE II | |
| NEURAMINIDASE DEFICIENCY; MUCOLIPIDOSIS I | |
|
256550
OMIM = Online Mendelian Inheritance of Men | |
|
87876 | |
| Sialidase 1 | |
| 3.2.1.18 | |
| rare autosomal recessive - type I: milder, late-onset, normosomatic form - type II: severe, early-onset form | |
| Laboratory findings | alpha-Neuraminidase dec (fibroblasts) Creatine kinase inc (serum) Lymphocytes, vacuoles (blood) Sialyloligosaccharides inc (urine) |
| Symptoms | angiokeratoma ataxia cherry-red spot on retinal macula exaggerated startle reflex hypertonia, spasticity myoclonus renal failure, acute/chronic seizures ascites blindness, visual loss, visual impairment cardiomegaly cardiomyopathy coarse facial features corneal clouding developmental delay dysmorphism dysostosis multiplex edema EMG abnormalities [-] hearing defect, deafness hepatomegaly (large liver) hernia hydrops fetalis hypotonia intellectual disability/intellectual developmental disorder lens opacities macrocephaly (large calvaria, >2 SD for age) mental retardation muscle weakness night blindness nystagmus onset, adolescent onset, adulthood onset, adulthood onset, childhood onset, childhood onset, neonatal progressive neurologic defect prominent abdomen short stature splenomegaly (large spleen) tubulopathy vertebral changes or anomalies |