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Table 1 MPS III patients with a mild- or non-neuropathic phenotype

From: The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

IDAge at Diagnosis (years)Current Age (years)Symptom leading to diagnostic studiesMPS III Subtype aMutation 1Protein 1Mutation 2Protein 2Enzyme ActivityReference Range (nmol/mg.17 h)MaterialUrinary GAGsReference Range (mg/mmol creatinine)Age at Decline (years)
1.16465RDAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)0.13–12LeucocytesHS: 110.50–7.6 
2.15656Family screeningAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)0.13–12LeucocytesHS: 1000–7.6 
3.16262Family screeningAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)03–12LeucocytesHS: 10.10–7.6 
4.15152Family screeningAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)03–12LeucocytesHS: 52.90–7.6 
5.15354Family screeningAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)0.13–12LeucocytesHS: 70.90–7.6 
6.2521Family screeningAc.892 T > Cp.(Ser298Pro)c.1262C > Gp.(Thr421Arg)0.14.1–10.7LeucocytesTotal: 281–8 
7.2319Family screeningAc.892 T > Cp.(Ser298Pro)c.1262C > Gp.(Thr421Arg)0.14.1–10.7LeucocytesTotal: 235–15 
8.34950RDAc.1130G > Ap.(Arg377His)c.545G > Ap.(Arg182His)0.23–12LeucocytesHS: 134.60–7.6 
9.34141Family screeningAc.1130G > Ap.(Arg377His)c.545G > Ap.(Arg182His)03–12LeucocytesHS: 25.10–7.6 
10.42732Family screeningBc.1927C > Tp.(Arg643Cys)c.1834A > Gp.(Ser612Gly)0.00.70–2.60bLeucocytesHS: 61250–34332
11.54142Sudden decline in neurocognitive functioningAc.220C > Tp.(Arg74Cys)c.1063G > Ap.(Glu355Lys)0.23.2–20LeucocytesTotal: 13.60–841
12.66874HCMAc.734G > Ap.(Arg245His)c.545G > Ap.(Arg182His)0.220–90FibroblastsTotal: 19.70–5.2 
Cases from literature
1 [16]53NKCardiomyopathyANKNKNKNK0.61.1 – 12cLeucocytesTotal: 5.32.4–4.8 
2 [17]42NKRetinitis pigmentosa + dementiaCNKNKNKNK4.113–46LeucocytesNKNK
3 [17]46NKRetinitis pigmentosa + dementiaCNKNKNKNK1.413–46LeucocytesNKNK
  1. Abbreviations: GAGs glycosaminoglycans; HCM hypertrophic cardiomyopathy; HS heparan sulfate; NK not known; RD retinital dystrophy; increased heparan sulfate.
  2. ID = This column depicts twelve patients (numbers 1–12 before the punctuation) from six different families (numbers 1–6 after the punctuation).
  3. a Gene per subtype = Type A: SGSH; type B: NAGLU; type C: HGSNAT.
  4. b Enzyme activity reference range is in nmol/mg.hr.
  5. c Enzyme activity reference range is in pmol/min/mg