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Summary
G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE
G(M2)-GANGLIOSIDOSIS WITH HEXOSAMINIDASE A DEFICIENCY
272800
OMIM = Online Medalian Inheritance of Men
845
15q23
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:320.000 )
autosomal recessive
3 types:
- infantile, acute form (classical Tay-Sachs disease)
- subacute form
- chronic form
symptoms
ataxia
blindness, visual loss, visual impairment
cherry-red spot on retinal macula
dysostosis multiplex
encephalopathy
hepatomegaly (large liver)
hypotonia
infections (severe or recurrent)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
myoclonus
onset, infancy
psychosis
seizures
spastic diplegia/quadriplegia
laboratory finding
Hexosaminidase A 100.00decreased activityserum
Hexosaminidase A 100.00decreased activityfibroblasts
Hexosaminidase B 100.00increased/normalfibroblasts
Oligosaccharides0.000.00 abnormalurineno data
CT, brain, abnormalities -
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
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