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Summary
G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE
SANDHOFF DISEASE G(M2)-GANGLIOSIDOSIS WITH HEXOSAMINIDASE A AND B DEFICIENCY
268800
OMIM = Online Medalian Inheritance of Men
796
5q13.3
  • no specific treatment
  • supportive/symptomatic therapy
1:300.000
autosomal recessive
3 types:
- infantile, acute form (classical Sandhoff disease)
- subacute form
- chronic form
symptoms
ataxia
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cherry-red spot on retinal macula
dysostosis multiplex
early death
hepatomegaly (large liver)
hypotonia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
onset, adulthood
onset, childhood
onset, infancy
optic atrophy
seizures
spastic diplegia/quadriplegia
laboratory finding
beta-Hexosaminidase 100.00decreased activityserum
beta-Hexosaminidase 100.00decreased activityleucocytes
Oligosaccharides0.000.00 abnormalurineno data
CT, brain, abnormalities -
MRI, brain, abnormalities -
Literature
Byers PHDisorders of collagen biosynthesis and structureThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31344029-40771995
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
de Koning TJ,Poll-The BT, Jaeken JContinuing education in neurometabolic disorders--serine deficiency disordersNeuropediatrics3011-41999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Bompaire F,et al.Atypical presentation of a novel serine deficiency syndrome in an adultJ Inherit Metab Dis (SSIEM 2012 Birmingham)3501632012
Wanders RJA,et al.3-HYDROXYISOBUTYRIC ACID DEHYDROGENASE DEFICIENCY: IDENTIFICATION OF A NEW INBOR ERROR OF VALINE METABOLISMJ Inherit Metab Dis (SSIEM 2012 Birmingham)351S12012