Patient | Age | Gender | Race, ethnicity | Country of origin | GALNS activity | Total Glycosaminoglycans | GALNS mutation | Height | Phenotype |
---|---|---|---|---|---|---|---|---|---|
Ā | (years) | Ā | Ā | Ā | Ā | NR (149.4ā207.9āng/mg Cre) | Ā | (z-score) | Ā |
1 | 12.7 | Female | Caucasian | Iraq | 40āpmol/mg/h | 2799.55āng/mg Cre | c.230 Cā>āG / c.230 Cā>āG | ā7.0 | Severe |
Ā | Ā | Ā | Ā | Ā | (NR 400ā2000) | Ā | Ā | Ā | Ā |
2 | 8.3 | Male | Caucasian | Iraq | 28āpmol/mg/h | 1924.52āng/mg Cre | c.230 Cā>āG / c.230 Cā>āG | ā6.1 | Severe |
Ā | Ā | Ā | Ā | Ā | (RR 400ā2000) | Ā | Ā | Ā | Ā |
3 | 38.4 | Male | Caucasian | US | 0.06ānmol/mg/h | 1158.20āng/mg Cre | c.1353āGā>āT / c.1353āGā>āT | ā3.4 | Attenuated |
Ā | Ā | Ā | Ā | Ā | (NV 0.95) | Ā | Ā | Ā | Ā |
4 | 6.4 | Female | Chinese | China | 0.58ānmol/17āh/ mg | 2266.21āng/mg Cre | c.106_111delCTGCTC / c.953āTā>āG | ā6.0 | Severe |
Ā | Ā | Ā | Ā | Ā | (RR 42.3ā441.9) | Ā | Ā | Ā | Ā |
5 | 18.3 | Male | Hispanic | Mexico | Not Available | 479.51āng/mg Cre | c.1156Cā>āT / 32ākb del | ā8.11 | Severe |
6 | 3.9 | Male | Hispanic | US | Not Available | 1753.43āng/mg Cre | c.901Gā>āT / c.1520Gā>āT | ā3.73 | Severe |
7 | 8.5 | Female | Caucasian | US | Deficient | Not Available | c.239Cā>āT /? | ā6.77 | Severe |
8 | 4.6 | Female | Caucasian | US | Not Available | Not Available | c.239Cā>āT /? | ā6.34 | Severe |
9 | 25.9 | Male | Hispanic | US | Deficient | Qualitatively Elevated | Not Available | ā6.09 | Severe |
10 | 22.2 | Male | Hispanic | US | 7000āU | Elevated | c.1156Cā>āT / c.924āTā>āGā+āc.930Gā>āC | ā9.0 | Severe |
Ā | Ā | Ā | Ā | Ā | (RRā>ā40,000) | Ā | Ā | Ā | Ā |
11 | 10.4 | Female | Hispanic / Caucasian | US | 0.05āU | Qualitatively Elevated | c.776Gā>āA / c.1520Gā>āT | ā2.23 | Attenuated |
Ā | Ā | Ā | Ā | Ā | (RRā>ā0.7) | Ā | Ā | Ā | Ā |
12 | 16.1 | Male | Hispanic | US | 0ānmol / 17āh / mg | 8.4āmg/mmol Creat | c.281Gā>āA / c.1156Cā>āT | ā4.27 | Severe |
Ā | Ā | Ā | Ā | Ā | (RRā>ā92) | (NRā<ā6.5) | Ā | Ā | Ā |