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Table 1 Demographic, biochemical, and sequence variation characteristics in TSD Egyptian patients

From: Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

  1. y: years, m: months, neurodeg: neurodegenerative, manifest: manifestations, F: female, M: male
  2. ^c.1551G > A (E417E) corresponds to c.1518G > A (E506E) in a different transcript
  3. Enzyme activity unit: l µmol/L/h
  4. Normal HEXA- α subunit enzyme activity reference range = 50–200 µmol/L/h
  5. Normal HEXA- β subunit enzyme activity reference range = 100–3500 µmol/L/h
  6. Blue shaded rows present TSD patients with a confirmed deficient Hex-A enzyme activity, but the causative mutations were not identified
  7. *Novel mutations
  8. #Heterozygous variant
  9. ●Homozygous variant
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172