Visit Metagene.de!
Summary
SIALIDOSIS TYPE I
NEURAMINIDASE DEFICIENCY MUCOLIPIDOSIS I
256550
OMIM = Online Medalian Inheritance of Men
812
6p21.33
  • symptomatic therapy
rare
autosomal recessive
- type I: milder, late-onset, normosomatic form
- type II: severe, early-onset form
symptoms
ataxia
blindness, visual loss, visual impairment
cherry-red spot on retinal macula
corneal clouding
dysarthria
hearing defect, deafness
hepatomegaly (large liver)
hyperreflexia
hypotonia
lens opacities
macrocephaly (large calvaria, >2 SD for age)
mental retardation
myoclonus
night blindness
nystagmus
onset, adolescent
onset, adult
onset, child
progressive neurologic defect
pyramidal signs
renal failure, acute/chronic
seizures
short stature
splenomegaly (large spleen)
laboratory finding
Sialyloligosaccharides0.000.00 increasedurineno data
alpha-Neuraminidase decreased activityfibroblasts
Lymphocytes, vacuoles blood
Literature
Cresto JCet al.Long term follow up of persistant hyperinsulinaemic hypoglycaemia of infancyArch Dis Child790440-4441998
Ryan Fet al.Hyperinsulinism: molecular aetiology of focal diseaseArch Dis Child790445-4471998
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