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Metabolites

The metabolites that are measured are shown below, click on the name for furher details;

2-Ketoglutaric acid (CSF)

2-Ketoglutaric acid (plasma)

3-Hydroxy-3-methylglutaric acid

3-hydroxybutyric acid

3-Hydroxyglutaric acid (amniotic fluid)

3-Hydroxyglutaric acid (CSF)

3-Hydroxyglutaric acid (plasma)

3-Hydroxyglutaric acid (urine)

3-Hydroxy-isovaleric acid (amniotic fluid)

3-Hydroxy-isovaleric acid (CSF)

3-Hydroxy-isovaleric acid (plasma)

3-Methylglutaconic acid (amniotic fluid)

3-Methylglutaconic acid (urine)

4-Hydroxybutyric acid (amniotic fluid)

4-Hydroxybutyric acid (CSF)

4-Hydroxybutyric acid (plasma)

4-Hydroxybutyric acid (urine)

4-hydroxyglutamate

5-Methyltetrahydrofolate

7-Dehydrocholesterol (amniotic fluid)

7-Dehydrocholesterol (plasma)

Acetoacetate

Acylcarnitines (Guthrie card)

Acylcarnitines (plasma)

Alfa-aminoadipine semialdehyde (CSF)

Alfa-aminoadipine semialdehyde (plasma)

Alfa-aminoadipine semialdehyde (urine)

Amino acids (amniotic fluid)

Amino acids (CSF)

Amino acids (plasma)

Amino acids (urine)

B6 vitamers

Carnitine

Catecholamines (CSF)

Cholesterol intermediates

Creatine (CSF)

Creatine (plasma)

Creatine (urine)

Cystine

D- en L-2-Hydroxyglutaric acid (amniotic fluid)

D- en L-2-Hydroxyglutaric acid (CSF)

D- en L-2-Hydroxyglutaric acid (plasma)

D- en L-2-Hydroxyglutaric acid (urine)

Ethylmalonic acid (amniotic fluid)

Ethylmalonic acid (CSF)

Ethylmalonic acid (plasma)

Fructose (CSF)

Fructose (plasma)

Fructose (urine)

GABA and ß-Alanine

Galactitol (amniotic fluid)

Galactitol (plasma)

Galactitol (urine)

Galactose (CSF)

Galactose (plasma)

Galactose (urine)

Glutaric acid (CSF)

Glutaric acid (amniotic fluid)

Glutaric acid (plasma)

Glutaric acid (urine)

Glyceric acid (urine)

Glycineconjugates (urine)

Glycolic acid

Guanidinoacetate (CSF)

Guanidinoacetate (plasma)

Guanidinoacetate (urine)

Homocysteine (plasma)

Homocystine (urine)

Isovalerylglycine

Lactate

Malonic acid

Methylcitrate

Methylmalonic acid (amniotic fluid)

Methylmalonic acid (CSF)

Methylmalonic acid (plasma)

Methylmalonic acid (urine)

Mono-, Di- and Oligosaccharides (urine)

Mono-, Di- en Oligosaccharides (amniotic fluid)

Mucopolysaccharides (electrophoresis)

Mucopolysaccharides (quantitative)

N-Acetyl-aspartic acid (amniotic fluid)

N-Acetyl-aspartic acid (CSF)

N-Acetyl-aspartic acid (plasma)

N-Acetyl-aspartic acid (urine)

N-acetyl-aspartyl-glutamate (CSF)

Organic acids (CSF)

Organic acids (plasma)

Organic acids (urine)

Orotic acid

Oxalic-, glycolic and glyceric- acid in urine

Phenylalanine en tyrosine

Phytanic acid

Pipecolic acid (CSF)

Pipecolic acid (plasma)

Pipecolic acid (urine)

Pristanic acid and Phytanic acid (plasma)

Pterins

Pyruvate

SAM/SAH (CSF)

SAM/SAH (plasma)

Sialic acid (amniotic fluid)

Sialic acid (CSF)

Sialic acid (urine)

Sorbitol (plasma)

ß-carotene

Succinylacetone (amniotic fluid)

Succinylacetone (plasma)

Succinylacetone (urine)

Sugar-phosphates

Sugars and polyols (CSF)

Sugars and polyols (plasma)

Sugars and polyols (urine)

Transferrine isoelectric focusing

Very Long Chain Fatty Acids (plasma)

Vitamine A

Vitamine B1

Vitamine B6

Vitamine E

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