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Summary
G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY
TAY-SACHS DISEASE, AB VARIANT G(M2)-GANGLIOSIDOSIS WITH HEXOAMINIDASE A DEFICIENCY
272750
OMIM = Online Medalian Inheritance of Men
309246
5q33.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
  • supportive/symptomatic therapy
very rare
autosomal recessive
infantile acute form, indistinguishable from infantile Tay-Sachs or Sandhoff disease
symptoms
blindness, visual loss, visual impairment
cherry-red spot on retinal macula
early death
hypertonia, spasticity
hypotonia
lethargy, drowsiness, malaise or sleep disorder
macrocephaly (large calvaria, >2 SD for age)
mental retardation
onset, infancy
progressive neurologic defect
seizures
speech difficulties
laboratory finding
GM2 activator protein absentfibroblasts
EEG abnormalities -
5-Oxoproline0.000.00 increasedurineno data
Oligosaccharides abnormalurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
de Koning TJTreatment with amino acids in serine deficiency disordersJ Inherit Metab Dis292347-3512006
Veiga-da-Cunha M,et al.Mutations responsible for 3-phosphoserine phosphatase deficiencyEur J Hum Genet122163-1662004
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
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
Jaeken J,et al.3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesisJ Inherit Metab Dis1922232261996