Table 2.
Demographic details of the cases (n = 246) used in correlation studies
| Diseases with enzyme | Total cases | Countries | Region | Cases | Age | Gender | Positive | Normal |
|---|---|---|---|---|---|---|---|---|
| Gaucher (β-glucosidase) | 54 | India | North India | 23 | 3 months–7 years | 12 M, 11 F | 15 | 8 |
| South India | 13 | 1–10 years | 7 M, 6 F | 8 | 5 | |||
| East India | 1 | 13 years | F | 1 | 0 | |||
| West India | 3 | 2–5 years | 1 M, 2 F | 2 | 1 | |||
| Pakistan | 11 | 11 months–13 years | 8 M, 3 F | 9 | 2 | |||
| Sri Lanka | 3 | 2.6–9 years | 3 M | 2 | 1 | |||
| Pompe (α-glucosidase) | 35 | India | North India | 10 | 10 months–35 years | 8 M, 2 F | 3 | 7 |
| South India | 15 | 3 months–22 years | 7 M, 8 F | 8 | 7 | |||
| East India | 2 | 9 months–1 year | 2 F | 2 | 0 | |||
| West India | 5 | 5–12 years | 4 M, 1 F | 3 | 2 | |||
| Pakistan | 1 | 1 year | M | 1 | 0 | |||
| Sri Lanka | 2 | 6 years, 7 years | 2 F | 0 | 2 | |||
| Fabry (α-galactosidase) | 11 | India | North India | 7 | 8–65 years | 4 M, 3 F | 2 | 4 |
| South India | 4 | 11–35 years | 3 M, 1 F | 1 | 4 | |||
| Tay Sachs (β-hexosaminidase A) | 14 | India | North India | 9 | 3 months–2.5 years | 6 M, 3 F | 6 | 3 |
| South India | 5 | 6 months–4 years | 3 M, 2 F | 3 | 2 | |||
| Sandhoff (Total hexosaminidase) | 10 | India | North India | 4 | 1–3.5 years | 2 M, 2 F | 2 | 2 |
| South India | 3 | 2–4 years | 1 M, 2 F | 2 | 1 | |||
| West India | 3 | 3–5 years | 2 M, 1 F | 1 | 2 | |||
| GM1 (β-galactosidase) | 11 | India | North India | 8 | 1–5 years | 4 M, 4 F | 4 | 4 |
| West India | 3 | 1.5–8 years | 3 M | 2 | 1 | |||
| Niemann Pick (sphingomyelinase) | 5 | India | North India | 5 | 2.5 months–2.5 years | 3 M, 2 F | 3 | 2 |
| NCL1 (Infantile) (palmitoyl-protein thioesterase) | 10 | India | North India | 4 | 1–3 years | 1 M, 3 F | 2 | 2 |
| South India | 6 | 4 months–1 year | 3 M, 3 F | 3 | 3 | |||
| NCL2 (late infantile) (tripeptidyl peptidase) | 8 | India | North India | 8 | 7–15 years | 6 M, 2 F | 3 | 5 |
| Fucosidosis (α-fucosidase) | 7 | India | North India | 5 | 2–4 years | 2 M, 3 F | 2 | 3 |
| East India | 2 | 1–3 years | 2 M | 0 | 2 | |||
| Mannosidosis (α-mannosidase) | 5 | India | North India | 5 | 3.5–8 years | 3 M, 2 F | 0 | 5 |
| MPS-I (α-iduronidase) | 25 | India | North India | 8 | 2–4.5 years | 3 M, 3 F | 4 | 4 |
| South India | 9 | 1–13 years | 4 M, 5 F | 6 | 3 | |||
| Pakistan | 6 | 1–15 years | 3 M, 3 F | 3 | 3 | |||
| Sri Lanka | 2 | 1–1.6 years | 1 M, 1 F | 0 | 2 | |||
| MPS-II (iduronate 2 sulfatase) | 10 | India | North India | 5 | 1–12 years | 4 M, 1 F | 4 | 1 |
| West India | 5 | 2.5–15 years | 4 M, 1 F | 1 | 4 | |||
| MPS-IIIb (α-hexosaminidase) | 9 | India | North India | 5 | 2–5 years | 2 M, 3 F | 0 | 5 |
| South India | 4 | 2–2.5 years | 2 M, 2 F | 2 | 2 | |||
| MPS-IVa (galactose 6-sulfatase) | 10 | India | North India | 5 | 2–7 years | 4 M, 1 F | 3 | 2 |
| South India | 5 | 5–10 years | 2 M, 3 F | 2 | 3 | |||
| MPS-VI (aryl sulfatase B) | 11 | India | North India | 4 | 6 months–6 years | 2 M, 2 F | 2 | 2 |
| South India | 5 | 1–5.3 years | 3 M, 2 F | 2 | 3 | |||
| East India | 2 | 1.5–2.5 years | 2 F | 2 | 0 | |||
| MPS-VII (β-glucuronidase) | 8 | India | North India | 5 | 12–18 years | 4 M, 1 F | 1 | 2 |
| West India | 3 | 14–23 years | 3 F | 2 | 3 | |||
| I-Cell | 3 | India | North India | 3 | 3–5 years | 3 F | 3 | 0 |
| Total | 246 | 246 | 127 | 119 |