Table 1.
Clinical and molecular characteristics of the patients.
| Family | F1 | F2 | F3 | F4 | F5 | F5 | F6 | F6 | F7 | F8 | F9 | F10 | F11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | P13 |
| Age (Years) | 13.8 | 10.7 | 22.6 | 16.1 | 4.2 | 12.6 | 1.7 | 4.5 | 14.9 | 15.8 | 15.7 | 9.6 | 5.1 |
| Sex | M | F | F | M | M | F | M | F | F | F | F | M | F |
| Consanguinity | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 1 |
| Phenotype | IS | IS | IS | IS | IS | IS | IS | IS | IS | IH/S | IS | IH | IH |
| Genotype | p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Pro533Arg) p.(Pro533Arg) |
p.(Glu178Lys) p.(Glu178Lys) |
p.(Pro533Arg) p.(Tyr581*) |
p.(Tyr167*) p.(Tyr167*) |
| GAG quantitation (fold change to the reference range mean according to age) | 7 | 47 | 95 | 18 | 11 | 22 | / | 44 | 23 | 46 | 10 | / | 19.6 |
| IDUA Enzyme activity (% to the reference range mean) | 0 | 0 | 6 | 7 | 15 | 10 | 9 | 10 | 0 | 0 | 5 | 0 | 2 |
| Diagnostic age (Years) | 5.5 | 8.7 | 15.7 | 13 | 3.1 | 11.4 | 0.9 | 2.7 | 8.3 | 8 | 15.5 | 2.6 | 2.7 |
| Weight (Kg) | 28 | 21 | 27 | 38 | 17 | 24 | 11 | 15 | 35 | 31 | 33 | / | 18 |
| (SD) | (−2.5) | (−2.5) | (−3) | (<−3) | (−3) | (−1) | (−1) | (−3) | (<−3) | (−3) | |||
| Height (cm) | 132 | 122 | 128 | 146 | 93 | 121 | 78 | 90 | 135 | 131 | 142 | / | 96 |
| (SD) | (−3.5) | (−3) | (<−4) | (<−4) | (−3) | (<−4) | (−1.5) | (−3.5) | (<−4 ) | (<−4) | (−3.5) | (−2.5) | |
| Mental retardation | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 |
| Facial dysmorphic features | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| Multiple dysostosis | 1 | 1 | 1 | 1 | / | 1 | 0 | 0 | 1 | 1 | 1 | 1 | 1 |
| Joint stiffness | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 1 | 1 | 1 |
| HM/HSM | HM | 0 | 0 | HM | HM | HSM | HM | HSM | HSM | HSM | 0 | HSM | HM |
| Hernia | OM | OM | OM | OM | OM | OM | OM | OM | OM | OM | OM | OM | OM |
| Chronic rhinorrhea | 1 | 1 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 1 |
| Deafness | BT | BT | / | / | / | / | / | / | Mixed | P | Mixed | / | / |
| Corneal opacity | 0 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 1 |
| Cardiac manifestations | MI | MI + AI | MI + AI | MS + AS | MI | MS + AS | MI + AI | MI | MI + AI | MS | MI | / | 0 |
| Hydrocephalus | 1 | 1 | 1 | 0 | / | / | 0 | 0 | 1 | 1 | 0 | 1 | 1 |
1: Present; 0: Absent; M: Male; F: Female; IH: Hurler (Severe); IH/S: Hurler-Scheie; IS: Scheie; SD: Standard Deviation; OM: Ombelical hernia; HM: Hepatomegaly; HSM: Hepatosplenomegaly; BTD: Bilateral transmission deafness; Mixed: Mixed deafness; P: Perceptive deafness; MI: Mitral Insufficiency; MS: Mitral Stenosis; AI: Aortic Insufficiency; AS: Aortic Stenosis; /: No data.