Table 1.
MPS III patients with a mild- or non-neuropathic phenotype
| ID | Age at Diagnosis (years) | Current Age (years) | Symptom leading to diagnostic studies | MPS III Subtype a | Mutation 1 | Protein 1 | Mutation 2 | Protein 2 | Enzyme Activity | Reference Range (nmol/mg.17 h) | Material | Urinary GAGs | Reference Range (mg/mmol creatinine) | Age at Decline (years) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1.1 | 64 | 65 | RD | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0.1 | 3–12 | Leucocytes | HS: 110.5 | 0–7.6 | |
| 2.1 | 56 | 56 | Family screening | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0.1 | 3–12 | Leucocytes | HS: 100 | 0–7.6 | |
| 3.1 | 62 | 62 | Family screening | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0 | 3–12 | Leucocytes | HS: 10.1 | 0–7.6 | |
| 4.1 | 51 | 52 | Family screening | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0 | 3–12 | Leucocytes | HS: 52.9 | 0–7.6 | |
| 5.1 | 53 | 54 | Family screening | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0.1 | 3–12 | Leucocytes | HS: 70.9 | 0–7.6 | |
| 6.2 | 5 | 21 | Family screening | A | c.892 T > C | p.(Ser298Pro) | c.1262C > G | p.(Thr421Arg) | 0.1 | 4.1–10.7 | Leucocytes | Total: 28 | 1–8 | |
| 7.2 | 3 | 19 | Family screening | A | c.892 T > C | p.(Ser298Pro) | c.1262C > G | p.(Thr421Arg) | 0.1 | 4.1–10.7 | Leucocytes | Total: 23 | 5–15 | |
| 8.3 | 49 | 50 | RD | A | c.1130G > A | p.(Arg377His) | c.545G > A | p.(Arg182His) | 0.2 | 3–12 | Leucocytes | HS: 134.6 | 0–7.6 | |
| 9.3 | 41 | 41 | Family screening | A | c.1130G > A | p.(Arg377His) | c.545G > A | p.(Arg182His) | 0 | 3–12 | Leucocytes | HS: 25.1 | 0–7.6 | |
| 10.4 | 27 | 32 | Family screening | B | c.1927C > T | p.(Arg643Cys) | c.1834A > G | p.(Ser612Gly) | 0.0 | 0.70–2.60b | Leucocytes | HS: 6125 | 0–343 | 32 |
| 11.5 | 41 | 42 | Sudden decline in neurocognitive functioning | A | c.220C > T | p.(Arg74Cys) | c.1063G > A | p.(Glu355Lys) | 0.2 | 3.2–20 | Leucocytes | Total: 13.6 | 0–8 | 41 |
| 12.6 | 68 | 74 | HCM | A | c.734G > A | p.(Arg245His) | c.545G > A | p.(Arg182His) | 0.2 | 20–90 | Fibroblasts | Total: 19.7 | 0–5.2 | |
| Cases from literature | ||||||||||||||
| 1 [16] | 53 | NK | Cardiomyopathy | A | NK | NK | NK | NK | 0.6 | 1.1 – 12c | Leucocytes | Total: 5.3 | 2.4–4.8 | |
| 2 [17] | 42 | NK | Retinitis pigmentosa + dementia | C | NK | NK | NK | NK | 4.1 | 13–46 | Leucocytes | ↑ | NK | NK |
| 3 [17] | 46 | NK | Retinitis pigmentosa + dementia | C | NK | NK | NK | NK | 1.4 | 13–46 | Leucocytes | ↑ | NK | NK |
Abbreviations: GAGs glycosaminoglycans; HCM hypertrophic cardiomyopathy; HS heparan sulfate; NK not known; RD retinital dystrophy; ↑ increased heparan sulfate.
ID = This column depicts twelve patients (numbers 1–12 before the punctuation) from six different families (numbers 1–6 after the punctuation).
a Gene per subtype = Type A: SGSH; type B: NAGLU; type C: HGSNAT.
b Enzyme activity reference range is in nmol/mg.hr.
c Enzyme activity reference range is in pmol/min/mg