|
Acylcarnitine profiles (n = 3)
| ● MCAD deficiency | | |
| ● SCAD deficiency | | |
| ● VLCAD deficiency | | |
|
Free-to-total serum/plasma carnitine (n = 1)
| ● Carnitine palmitoyltransferase I deficiency | | |
|
Plasma Amino Acids (n = 10)
| ● Argininemia | ● Hartnup disease | ● MTHFR Deficiency (&tHcy) |
| ● Argininosuccinate lyase deficiency | ● HHH syndrome | ● Ornithine transcarbamylase deficiency |
| ● Citrullinemia type I | ● Maple syrup urine disease | ● Phenylketonuria (PKU) |
| ● Citrullinemia, type II | | |
|
Plasma cholesterol (n = 1)
| ● Cerebrotendinous xanthomatosis (CTX) | | |
|
Serum copper & ceruloplasmin (n = 2)
| ● Menkes Disease (& urine deoxypyridinoline) | | |
| ● Wilson Disease (& urine copper) | | |
|
Urine tests
| | | |
|
Urine creatine metabolites (n = 1)
| ● GAMT deficiency | | |
|
Urine oligosaccharides (n = 1)
| ● Fucosidosis | | |
|
Urine organic acids (n = 17)
| ● 3-Methylglutaconic aciduria type 1 | ● Ethylmalonic encephalopathy (& ACP) | ● MHBD deficiency |
| ● 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency (& ACP) | ● SSADH | ● HMG-CoA lyase deficiency |
| ● β-Ketothiolase deficiency | ● Glutaric aciduria type I | ● mHMG-CoA synthase deficiency |
| ● Cobalamin deficiencies (& PAA) | ● Holocarboxylase synthetase deficiency | ● Multiple acyl-CoA-dehydrogenase deficiency (MADD) |
| ● Cystathionine β-synthase deficiency | ● Isovaleric academia | ● Propionic academia |
| | ● Methylmalonic academia | ● SCOT deficiency |
|
Urine purines & pyrimidines (n = 2)
| ● Lesch-Nyhan syndrome | | |
| ● Molybdenum cofactor deficiency | | |
