Table 3.
Values tested in samples (in leukocytes unless otherwise specified)
| Patient | LSD | Test | Value Obtained* | Normal Range |
|---|---|---|---|---|
| LH3 | Galactosialidosis | Beta-galactosidase | 3.0 | 35–120 |
| Beta-galactosidase (plasma) | 13.1 | 10–40 | ||
| Total sialic acid content | 23.1 | 8–22 | ||
| LH8 | Galactosialidosis | Beta-galactosidase | 5.1 | 35–120 |
| Beta-galactosidase (plasma) | 17.6 | 10–40 | ||
| Total sialic acid content | 36.4 | 8–22 | ||
| LH12 | Galactosialidosis | Beta-galactosidasea | 8.5 | 35–120 |
| Beta-galactosidase (plasma)a | 14.2 | 10–40 | ||
| Total sialic acid contenta | 34.0 | 8–22 | ||
| LH16 | Galactosialidosis | Beta-galactosidase | 11.5 | 35–120 |
| Beta-galactosidase (plasma) | 8.4 | 10–40 | ||
| Total sialic acid content | 29.2 | 8–22 | ||
| LH17 | Galactosialidosis | Beta-galactosidase | 5.3 | 35–120 |
| Beta-galactosidase (plasma) | 10.1 | 10–40 | ||
| Total sialic acid content | 41.4 | 8–22 | ||
| LH18 | Galactosialidosis | Beta-galactosidase | 3.0 | 35–120 |
| Beta-galactosidase (plasma) | 4.0 | 10–40 | ||
| Total sialic acid content | 36.4 | 8–22 | ||
| LH22 | Galactosialidosis | Beta-galactosidase | 3.9 | 35–120 |
| Beta-galactosidase (plasma) | 22.0 | 10–40 | ||
| Total sialic acid content | 35.8 | 8–22 | ||
| LH30 | Galactosialidosis | Beta-galactosidase | 8.0 | 35–120 |
| Beta-galactosidase (plasma) | 33.0 | 10–40 | ||
| Total sialic acid content | 34.7 | 8–22 | ||
| LH1 | SASD | Total sialic acid contentb | 37.3 | 8–22 |
| Free sialic acid contentb | 12.3 | 10–20% of total | ||
| LH2 | SASD | Total sialic acid contentb | 32.4 | 8–22 |
| Free sialic acid contentb | 13.0 | 10–20% of total | ||
| LH11 | SASD | Total sialic acid contentc | 48.5 | 8–22 |
| Free sialic acid contentc | 38.4 | 10–20% of total | ||
| LH23 | SASD | Total sialic acid contentb | 26.5 | 8–22 |
| Free sialic acid contentb | 17.8 | 10–20% of total | ||
| LH28 | SASD | Total sialic acid content | 34.7 | 8–22 |
| Free sialic acid content | 20.8 | 10–20% of total | ||
| LH4 | Mucopolysaccharidosis VII | Beta-glucuronidase | 0.2 | 100–400 |
| LH19 | Mucopolysaccharidosis VII | Beta-glucuronidase | 0 | 100–400 |
| LH21 | Mucopolysaccharidosis VII | Beta-glucuronidase (AFC) | 0 | 100–400 |
| LH25 | Mucopolysaccharidosis VII | Beta-glucuronidase | 0.7 | 100–400 |
| LH26 | Mucopolysaccharidosis VII | Beta-glucuronidase | 0 | 100–400 |
| LH5 | Gaucher Disease | Glucocerebrosidase | 0.5 | 3.0–12.0 |
| LH6 | Gaucher Disease | Glucocerebrosidase | 0.7 | 3.0–12.0 |
| LH20 | Gaucher Disease | Glucocerebrosidase | 1.5 | 3.0–12.0 |
| LH24 | Gaucher Disease | Glucocerebrosidase | 1.0 | 3.0–12.0 |
| LH9 | Sialidosis | Total sialic acid content | 38.2 | 8–22 |
| Free sialic acid content | 3.9 | 10–20% of total | ||
| LH15 | Sialidosis | Total sialic acid contentc | 46.3 | 8–22 |
| Sialidasec | 1.2 | 50–120 | ||
| LH7 | GM1 Gangliosidosis | Beta-galactosidase | 2.8 | 35–120 |
| Beta-galactosidase (plasma) | 0.5 | 10–40 | ||
| LH14 | GM1 Gangliosidosis | Beta-galactosidase | 0.5 | 35–120 |
| Beta-galactosidase (plasma) | 0.1 | 10–40 | ||
| LH13 | Niemann-Pick Disease Type C | Excess free cholesterolc,d | ||
| LH29 | Mucolipidosis II/III | Beta-galactosidase (plasma) | 169.4 | 10–40 |
| Alpha-n-acglusaminidase (plasma) | 50.0 | 10–40 |
*
Enzyme values are expressed as nmol/hour/mg protein; sialic acid content is expressed as nmol/mg protein
a
Confirmed by measuring low sialidase activity in cultured fibroblasts
b
Confirmed with elevated total and free sialic acid in urine
c
Cultured fibroblasts
d
Filipin staining for free cholesterol was positive indicating a diagnosis of Niemann-Pick type C
AFC: amniotic fluid cells