List of methods

Disorder Metabolite Material Amount
Amino acids disordes, organic aciduria, fatty acids oxidation disorders
Aminoacids metabolism disorders Tandem mass spectrometry - Dried blood spot 2 spots
Organic aciduria, fatty acids oxidation disorders Aminoacids and acylcarnitines
Defect in aminoacids metabolism, urea cycle Aminoacids (quantitatively) in serum/plasma Serum/plasma 250 µl
Aminoacids (quantitatively) in urine Urine * 1000 µl
Orotic acid Urine * 1000 µl
Non ketotic hypeglycinemia, defect in serine biosynthesis Aminoacids (quantitatively) in CSF CSF 250 µl
Biotinidase deficiency Biotinidase (qualitatively) Dried blood spot 1 spot
Biotinidase (quantitatively) Serum 150 µl
Hyperhomocysteinemia Homocysteine EDTA plasma 150 µl
S-adenosylhomocysteine, S-adenosylmethionine EDTA plasma 150 µl
Cystathionine EDTA plasma 150 µl
Cerebral folate deficiency 5- Methyl tetrahydrofolate CSF 200 µl
Organic aciduria, aminoacidopathy, disordes of ß-oxidation fatty acids, Organic acids in urine Urine * 3500 µl
etc.
Supplementary examination of organic acids in urine Organic acids in serum/plasma Serum, plasma 400 µl
Tyrosinemia type I Succinylaceton Urine *, dried blood spot 20 µl, 2 spots
Carbohydrate metabolism
Transaldolase deficiency Polyols + Fructose Urine * 500 µl
Ribose-5-phosphate isomerase deficiency
Hereditary fructose intolerance
Fructose-1,6-bisphosphate deficiency
Essential fructosuria
Galactosemia
Galactosemia Galactose/galactose-1-phosphate Dried blood spot 1 spot
Increased excretion of galactitol in urine
Liver glycogenosis Glycogen EDTA/Heparin blood 5 ml
Energy metabolism
Cause of lactic acidosis Lactate, Pyruvate Deproteinized blood, CSF Blood 300 µl, CSF 200 µl
Ketonuria, ketosis, ketoacidosis 3-Hydroxybutyric acid Deproteinized blood, CSF Blood 300 µl, CSF 200 µl
Secondary carnitine deficiency Carnitine free, total, acylated Serum 100 µl
Urine * 50 µl
Disorder of creatine metabolism Creatine metabolism Urine * 10 µl
Lysosomal metabolism
Storage disease from the group of mucopolysaccharidoses Mucopolysaccharides semiquantitatively Urine * 100 µl
Storage disease from the group of mucopolysaccharidoses Mucopolysaccharides quantitatively Urine * 100 µl
Storage disease from the group of mucopolysaccharidoses Mucopolysaccharides qualitatively Urine * 15 ml
Storage disease from the group of glycoproteinosis and glycolipidosis Oligosaccharides, sialyloligosaccharides Urine * 30 µl
Pterine metabolism
Disorders of pterins metabolism Pterins Urine * 1000 µl
Recognise hyperphenylalaninemia/phenylketonuria
Purine and pyrimidine metabolism
Purines and pyrimidines cycle disorders Purines and Pyrimidines Urine * 600 µl
Plasma 150 µl
CSF 150 µl
Hyperuricemia Uric acid Serum, EDTA plasma, Urine * 200 µl
Hypouricemia
Examinations in purine metabolism Uric acid - index by Kaufman Serum, Urine * 200 µl
Uric acid - index by Stapleton Serum, Urine * 200 µl
Familial gout Uric acid - fractional excretion of Uric acid Serum, Urine * 200 µl
Hyperuricemia, hereditary renal hypouricemia
Hyperuricemic nephropathy
Familial juvenile hyperuricaemic nephropathy
Supplementary examination of uric acid Creatinine in serum, plasma Serum, EDTA plasma 200 µl
Peroxisomal metabolism
Peroxisomal disorders Very long fatty acids, plasmalogens Serum, plasma 200 µl
Simple metabolic urine tests
Galactosemia, Hereditary fructose intolerance Reducing substances Urine * 2 ml
Sulfite oxidase deficiency, Molybden cofactor deficiency Sulphites Urine * 2 ml
Metachromatic leucodystrophy Sulfatides Urine * ­
Multiple sulphatase deficiency
Sulphite oxidase deficiency, Molybden cofactor deficiency Thiosulfate qualitatively Urine * 2 ml
Sulphite oxidase deficiency, Molybden cofactor deficiency Thiosulfate quantitatively Urine * 600 µl
Urolithiasis, cystinuria Disulfides Urine * 2 ml
To standardize testing of analytes in urine - is necessary to analyse in all urine samples
* Creatinine in urine Urine 100 µl