Table 1 -. Tests performed by LIEM-MGS - Comparison of TIME A and TIME B.
| Enzyme / Metabolite | Disorder | Sample* | Time A | Time B | Percentages of change in the numbers of tests - TIME A compared to TIME B | |
|---|---|---|---|---|---|---|
| IEM-LDs | α-Iduronidase | Mucopolysaccharidosis Type I / Mucolipidosis | L,F, L,DBS | 109 | 37 | <66% |
| Iduronate sulfatase | Mucopolysaccharidosis Type II/ Multiple sulfatase deficiency | L,F, PL, DBS | 235 | 84 | <64% | |
| Heparan Sulfamidase | Mucopolysaccharidosis Type IIIA / Multiple sulfatase deficiency | L, F | 78 | 14 | <82% | |
| N-Acetyl-α-glucosaminidase | Mucopolysaccharidosis Type IIIB | L,F, PL,DBS | 138 | 27 | <80% | |
| Acetyl-CoA-α-glucosaminide-N-acetyltransferase | Mucopolysaccharidosis Type IIIC | L,F | 80 | 13 | <84% | |
| N-Acetylglucosamine-6-sulfatase | Mucopolysaccharidosis Type IIID / Multiple sulfatase deficiency | L,F | 73 | 12 | <84% | |
| N-Acetylgalactosamine-6-sulfatase | Mucopolysaccharidosis Type IVA / Multiple sulfatase deficiency | L,F,DBS | 269 | 88 | <67% | |
| β-Galactosidase | Mucopolysaccharidosis Type IVB / GM1 gangliosidosis / Galactosialidosis | L,F,DBS | 545 | 283 | <48% | |
| Arylsulfatase B | Mucopolysaccharidosis Type VI / Multiple sulfatase deficiency | L,F,DBS | 353 | 136 | <61% | |
| β-Glucuronidase | Mucopolysaccharidosis Type VII / Mucolipidosis | L,F, PL,DBS | 286 | 129 | <55% | |
| Galactocerebrosidase | Krabbe disease | L,F | 95 | 56 | <41% | |
| α-Mannosidase | α-Mannosidosis / Mucolipidosis | L,F, PL,DBS | 61 | 38 | <38% | |
| α-Fucosidase | Fucosidosis | L,F | 2 | 2 | = | |
| β-Mannosidase | β-Mannosidosis | L,F | 2 | 4 | >50% | |
| Palmitoyl protein thioesterase | Neuronal ceroid lipofuscinosis (CLN1) | L,F,DBS | 509 | 192 | <62% | |
| Tripeptidyl peptidase | Neuronal ceroid lipofuscinosis (CLN2) | L,F,DBS | 511 | 200 | <61% | |
| Hexosaminidases | GM2 gangliosidosis Tay Sachs / Sandhoff / Mucolipidosis | L,F, PL,DBS | 180 | 118 | <34% | |
| Hexosaminidase A MUGS | GM2 gangliosidosis B1 variant | L,F, PL,DBS | 173 | 115 | <33% | |
| Arylsulfatase A | Metachromatic leukodystrophy / Multiple sulfatase deficiency | L,F | 85 | 39 | <54% | |
| Lysosomal acid lipase | Lysosomal acid lipase deficiency / Wolman | L,F,DBS | 44 | 37 | <16% | |
| N-acetylgalactosaminidase | Schindler disease | L,F, PL | 5 | 5 | = | |
| α-Glucosidase | Pompe disease | L,F | 67 | 39 | <42% | |
| α-Galactosidase A | Fabry disease | L,F, PL,DBS | 21 | 22 | >5% | |
| β-Glucosidase | Gaucher disease | L,F,DBS | 236 | 116 | <51% | |
| Sphingomyelinase | Niemann-Pick A and B disease | L,F,DBS | 80 | 51 | <36% | |
| Neuraminidase | Sialidosis | F | 2 | 1 | <50% | |
| Chitotriosidase | Biomarker (Gaucher and others lysosomal disorders) | PL,DBS | 656 | 529 | <19% | |
| Urinary Glycosaminoglycans | Mucopolysaccharidosis | U | 865 | 567 | <34% | |
| Sialic acid | Sialidosis | U | 34 | 12 | <65% | |
| Oligosaccharides / Sialyloligosaccharides Chromatography | Oligosaccharidoses | U | 358 | 225 | <37% | |
| Glycosaminoglycans electophoresis | Mucopolysaccharidosis | U | 521 | 254 | <51% | |
| Sulfatide Chromatography | Metachromatic leukodystrophy / Multiple sulfatase deficiency | U | 77 | 52 | <32% | |
| IEM -others | Succinylacetone | Type I Tyrosinemia | PL,U | 199 | 146 | <27% |
| Orotic acid | Urea Cycle Disorders | U | 54 | 30 | <44% | |
| 7-Dehydrocholesterol | Smith Lemli Optiz Syndrome | PL, S | 30 | 19 | <37% | |
| Carbohydrates chromatography | Galactosemia and others | U | 45 | 31 | <31% | |
| Transferrin Isoelectric Focusing | Congenital disorders of glycosylation (CDG) | S | 209 | 131 | <37% | |
| Galactose 1 phosphatase uridyl transferase | Classic Galactosemia | WB | 51 | 39 | <23% | |
| Biotinidase | Biotinidase deficiency | PL, DBS | 70 | 78 | >11% | |
| Sulfite test | Sulfite oxidase deficiency / Molybdenum cofactor deficiency | U | 10 | 7 | <30% | |
| ERLICH | Porphyria | U | 4 | 2 | <50% |
*L: leukocytes; F: fibroblasts; PL: plasma; DBS: dried blood spots; U: urine; S: serum; WB: whole blood samples.