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. 2018 Sep;21(9):950–956. doi: 10.22038/IJBMS.2018.27742.6760

Table 3.

Clinical characters and biochemical analysis of MPS VI patients

Family ID Patient ID Diagnosis
age (years) /gender
ARSB Activitya mg GAGs/mm Cr2b Clinical Featuresc
F1 P1 3/FM NI NI CC, CCO, CF,CFF, CTS, GR, IH, JS, MC, UH, SK, SCC
F1 P2 2/M 0.47% NI CC, CCO, CF, CFF, CTS, GR, IH, JS, MC, UH, SK, SCC
F2 P3 2/M 0.03% 46.3 CC, CCO, CF, CFF, GR, IH, JS, MC, MY, UH, SK, SCC,
F3 P4 3/M 0.02% 40.0 CC, CCO, GR, HM, IH, JS, MC, SK
F4 P5 3/FM %0.03 NI CC, CCO, CFF, GR, HM, IH, MC, SK
F5 P6 3 /M %0.02 59.6 CC, CCO, CFF, GR, HD, IH, MC, UH, SK
a

. ARSB activity in the patient's leukocytes (L) or skin fibroblasts (F) refer to the mean value of several controls analyzed in the same experiment.

b

. Urine glycosaminoglycans concentration expressed as mg GAG/mmol creatinine. Normal values: 8.01 ± 3.67 (0–1 years); 4.15 ± 2.07 (2–4 years); 3.02 ± 1.6 (4–10 years); 2.76 ± 0.99 (10–15 years); 1.48 ± 0.87 (15–20 years).

c

. CC, corneal clouding; CCO, cardiac complications; CF, cardiac failure; CTS, carpal tunnel syndrome; CFF, coarse facial features; GR, growth retardation; H, hepatomegaly; IH, impaired hearing; MC, macrocephaly; JS, joint stiffness; SK, skeletal abnormalities; UH, umbilical hernia; SCC, spinal cord compression; NI, no information.