Groups of disorders

These groups of disorders can be diagnosed in our Metabolic Laboratory.

Sample material, sample preparation and shipping conditions are mentioned by clicking on the investigation and on our Request forms.

Amino Acid Disorders

Investigation  (1): Amino acids (plasma)

Investigation  (2): Amino acids (urine)

Investigation  (3): Acylcarnitine profile (DBS)

Investigation  (4): Amino acids (CSF)

Investigation  (5): Homocysteine (plasma)

Cholesterol Biosynthesis Disorders

Investigation: Cholesterol biosynthesis (sterol analysis, plasma)

Fatty Acid Oxidation Disorders

Investigation  (1): Acylcarnitine profile (DBS, plasma)

Investigation  (2): Organic acids (urine)

Investigation  (3): Free fatty acids / ketones (plasma)

Investigation  (4): Carnitine status (plasma)

Congenital Disorders of Glycosylation (CDG)

Investigation: Isoelektric Focussing of Transferrin (serum, DBS)

Disorders of Glutathione and Gamma-Glutamyl Cycle

Investigation (1): Glutathione in erythrocytes (Spectrophotometriy)
Investigation (2): Organic acids (urine)

Urea Cycle Disorders

Investigation  (1): Amino acids (plasma)

Investigation  (2): Amino acids (urine)

Investigation  (3): Orotic acid (urine)

Investigation  (4): Acylcarnitine profile (DBS)

Ketone Body Metabolism Disorders

Investigation  (1): Organic acids (urine)

Investigation  (2): Acylcarnitine profile (DBS, plasma)

Investigation  (3): Carnitine status (plasma)

Investigation  (4): Free fatty acids / ketones (plasma)

Carbohydrate Metabolism Disorders

Investigation  (1): Galactose metabolites (DBS)

Investigation  (2): Galactose-1-phosphate uridyltransferase (DBS)

Creatine Disorders

Investigation: Guanidino compounds (creatine, creatinine, guanidinoacetate; urine, plasma CSF)

Lysosomal Storage Disorders

Investigations  (1): Lysosomal investigations (urine) (Oligosaccharides, neuraminic acid, total glycosaminoglycans, electrophoretic separation of glycosaminoglycans)

Investigations (2): Lysosomale investigations (enzyme analysis); diagnostic programme lysosomal storage disorders

Mitochondrial Disorders

Investigation  (1): Lactate, Pyruvate (perchloric acid extract, ask for prescription before sampling)

Investigation  (2): Free fatty acids / ketones (plasma)

Investigation  (3): Amino acids (plasma)

Investigation  (4): Organic acids (urine)

Investigation  (5): Carnitine status (plasma)

Investigation  (6): Lactate (CSF)

Investigation  (7): Amino acids (CSF)

Neurotransmitter Disorders

Investigation  (1): Basic investigations (biogenic amines, 5-MTHF, pterins, amino acids; CSF)

Investigation  (2): 5-MTHF (CSF)

Investigation  (3): Serotonin (EDTA blood, ask for prescription before sampling)

Investigation  (4): Aromatic L-amino acid decarboxylase (AADC) activity (plasma)

Investigation  (5): Pterins (DBS, urine) and DHPR activity (DBS)

Investigation  (6): Vanillyl lactic acid (urine)

Organic Acidurias

Investigation  (1): Organic acids (urine)

Investigation  (2): Acylcarnitine profile (DBS, plasma)

Investigation  (3): Carnitine status (plasma)

Investigation  (4): Biotinidase activity (DBS, serum)

Peroxisomal Disorders

Investigation (1): VLCFA, phytanic acid, pristanic acid (plasma)

Investigation (2): Plasmalogens (erythrocytes) 

Investigation (3): Bile acid metabolites (urine)

Purine- and Pyrimidine Disorders

Investigation: Purine and pyrimidines (urine)

Tyrosinemia Type 1

Investigation  (1): Organic acids (urine)
Investigation  (2): Succinylacetone (DBS)