Visit Metagene.de!
Summary
SIALIDOSIS TYPE II
NEURAMINIDASE DEFICIENCY MUCOLIPIDOSIS I
256550
OMIM = Online Medalian Inheritance of Men
87876
6p21.33
  • symptomatic therapy
rare
autosomal recessive
- type I: milder, late-onset, normosomatic form
- type II: severe, early-onset form
symptoms
angiokeratoma
ascites
ataxia
blindness, visual loss, visual impairment
cardiomegaly
cherry-red spot on retinal macula
coarse facial features
corneal clouding
dysmorphism
dysostosis multiplex
edema
hearing defect, deafness
hepatomegaly (large liver)
hydrops fetalis
hypotonia
lens opacities
mental retardation
myoclonus
night blindness
nystagmus
onset, adolescent
onset, adult
onset, child
onset, newborn
progressive neurologic defect
prominent abdomen
short stature
splenomegaly (large spleen)
tubulopathy
vertebral changes
laboratory finding
Sialyloligosaccharides0.000.00 increasedurineno data
alpha-Neuraminidase decreased activityfibroblasts
Lymphocytes, vacuoles blood
Literature
Chowrimootoo GFEet al.Caeruloplasmin isoforms in Wilsons disease in neonatesArch Dis Child Fetal Neonatal Ed790F198-F2011998
Seidner Get al.GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierNat Genet180188-1911998
Beck MSieber N, Goebel HHProgressive cerebellar ataxia in juvenile GM2-gangliosidosis type SandhoffEur J Pediatr00866-8671997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Maher Fet al.Glucose transporter proteins in brainFASEB J801003-10111994
De Vivo DCet al.Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delayN Engl J Med3250703-7091991