Skip to main content

Table 2 Biochemical and mutation data

From: Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

Patient Enzyme assay in plasma HEXB mutation
Total HEX (% of normal range)a HEX-B activity (% of normal range)b % HEX-A/ total HEXc Zygosity Base change Amino acid change
1 21.9 (3.0%) 3.0 (1.1%) 89.0 homo c.1652G>A p.Cys551Tyr
2 70.2 (9.6%) 7.7 (2.7%) 89.0 homo c.1652G>A p.Cys551Tyr
3 48.9 (6.7%) 7.6 (2.6%) 84.5 homo c.1652G>A p.Cys551Tyr
4 33.1d (4.1%) NA 95.1d het
het
c.1652G>A
c.761 T>C
p.Cys551Tyr
p.Leu254Ser
5 46.1 (6.3%) 2.6 (0.9%) 94.5 homo c.1652G>A p.Cys551Tyr
  1. het heterozygous, homo homozygous
  2. a Total HEX reference range: 729 ± 225.6 nmol/hr./ml; % of normal range as compared to the according mean reference range
  3. b HEX-B activity reference range: 288.9 ± 59.1 nmol/hr./ml; % of normal range as compared to the according mean reference range
  4. c % HEX-A/total HEX reference range: 59.3 ± 6.3%
  5. d reference ranges for total enzyme activity and % HEX-A/total HEX activity were 801 ± 190 nmol/mg prot/hr. and 55–72%, respectively (National Taiwan University Hospital Laboratory)