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Table 1 Patient demographics and baseline characteristics

From: Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series

Patient Sex Consanguinity of parents Age at first symptoms (years) Age at diagnosis (years) Age at initiation of ERT (years) Duration of ERT (years) Current age (years) Enzyme level
nmol/mg/17 h
(45–240)a
Mutation
1 M Yes 1 0.04 (2 weeks)b 1.8 2.5 4.2 13 Homozygous: c.535 C > T (p. P179S)
2 M Yes 1.1 1.5 2.1 4.2 6.3 0 Homozygous: c.421 T > A (p.V141R)
3 F Yes 2 3.2 3.4 2.2 5.6 12 Homozygous: c.107 T > G (p.L36P)
4 F Yes 2.5 3.7 4.0 2.9 6.9 0.1 Homozygous: c.268C > T (p.R90W)
5 F Yes 2.8 4.9 5.2 2.8 8.0 0.1 Homozygous: c.922 T > C (p.C308R)
6 M Yes 1.9 3.8 5.2c 3.0 8.2 18.8 Homozygous: c.655A > T (p.R219X)
7 F Yes 1.5 5.4 7.1 4.6 11.7 13 Homozygous: c.421 T > A (p.W141R)
8 F Yes 3 16.1 16.5 4.4 20.9 0 Homozygous: c.922 T > C (p.C308R)
9 M Yes 7 15.6 16.6 4.5d 21.1 26 Homozygous: c.1417C > T (p.Q473X)
10 F Yes 0.8 5.9 39.5 4.7 44.2 0 Homozygous: c.1348G > A (p.E450K)
  1. aDetermined before initiation of ERT; bTreatment of case 1 started late because the family could not be reached; cCase 6 was diagnosed in a different center, and his treatment was initially delayed due to hypersensitivity reactions; dCase 9 was not compliant to the weekly treatment; he discontinued treatment many times; ERT: enzyme replacement therapy; F: female; M: male; NA: not available