Screens |
Associated Disorder(s) |
| amino acids (urine, plasma and CSF) |
aminoacidopathies |
|
| organic acids (urine) |
organicacidopathies
|
|
| mucopolysaccharides (urine) |
mucopolysaccharidoses
|
| purines and pyrimidines (urine) |
purine and pyrimidine disorders |
|
| acylcarnitines profile (dried blood) |
organicacidopathies (including FAODs)
|
| "metabolic screen" (includes urine amino acids and organic acids, also plasma amino acids if indicated) |
aminoacidopathies, organicacidopathies, aminoacidurias |
Tests |
Associated Disorder(s) |
| 7-dehydrocholesterol and other neutral sterols |
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis |
| acylglycines |
organicacidurias |
| allopurinol load test |
investigation for ornithine transcarbamylase carrier status |
| amino acids analysis (glycine, phenylalanine, cystine etc.) |
aminoacidopathies, cystinuria, non-ketotic hyperglycinaemia, phenylketonuria, cystinuria etc, |
| bile acid intermediates |
inborn errors of bile acid biosynthesis |
| Bratton-Marshall test |
adenylosuccinase deficiency |
| carnitine |
organicacidopathies, aminoacidopathies, carnitine transport defects |
| carnitine palmitoyltransferase |
CPT I deficiency, CPT II deficiency |
| cis tetradec-5-enoic acid |
very long chain acyl CoA dehydrogenase deficiency |
| galactokinase |
galactokinase deficiency |
| galactose-1-phosphate |
galactosaemia |
| galactose-1-phosphate uridyltransferase |
classical galactosaemia, galactosaemia variants |
| glutaric acid (total and free) |
glutaricacidaemia type I and II |
| guanidinoacetic acid (referred test) |
guanidinoacetic acid methyltransferase deficiency |
| methylmalonic acid |
methylmalonicaciduria, vitamin B12 deficiency |
| n-acetylaspartic acid |
Canavan’s disease (aspartoacylase deficiency) |
| orotic acid |
urea cycle defects |
| phenylalanine load test |
determination of phenylketonuria carrier status |
| phytanic and pristanic acids |
Refsum’s disease and other peroxisomal disorders |
| plasmalogens |
peroxisomal disorders |
| purines |
purine disorders |
| pyrimidines |
pyrimidine disorders |
| sulphatide |
metachromatic leukodystrophy |
| sulphite |
sulfite oxidase deficiency, molybdenum co-factor deficiency |
| sulphocysteine |
sulfite oxidase deficiency, molybdenum co-factor deficiency |
| trimethylamine |
trimethylaminuria (Fish Odour Synrome) |
| very long chain fatty acids |
peroxisomal disorders |
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