Methods

3

• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-Methoxytyramin in urine

5

• 5-Aminolevulinic acid in urine

A

• Acylcarnitine in EDTA plasma
• Acylcarnitine in dired blood spot
• Alpha-Fucosidase
• Alpha-Galactosidase (Ceramidetrihexoside)
• Alpha-Iduronidase
• Alpha-Mannosidase
• Amino acids (liquor /CSF)
• Amino acids (plasma)
• Amino acids (urine)
• Ammonia
• Arylsulfatase A (Sulfatidase)

B

• Beta-Galactocerebrosidase (Galactosylceramidase)
• Beta-Galactosidase (Sulfatidase)
• Beta-Glukosidase (Glucocerebrosidase)
• Beta-Glukuronidase
• Beta-Hexosaminidase A (GM2-Gangliosidose)
• Beta-Hexosaminidase, total (GM2-Gangliosidose)
• Beta-Hydroxybutyrate
• Biotin (Vitamin H) in serum
• Biotinidase

C

• Carnitine (L-carnitine), free
• Carnitine, total
• CDG-Diagnostics (CDG-Transferrin)
• Chitotriosidase (Galactosylceramidase)

F

• Folic acid
• Non-esterified fatty acids (NEFA)

G

• Galaktitol in urine
• Galactose-1-Phosphate
• Galactose-1-Phosphatee-Uridyltransferase (Gal-1-PUT)
• Bile acids in serum
• Glucose-6-Phosphatee-Dehydrogenase
• Guanidinoacetate

H

• Holotranscobalamin
• Homocysteine

K

• Ketone bodies
• Creatine in serum
• Creatine in urine

L

• Lactate in plasma
• Lactate/pyruvate ratio
• Long chain fatty acids (LCFA C16-C20)

M

• 2-methylacetoacetyl-CoA thiolase deficiency
• Methyl malonic acid in serum
• Methyl malonic acid in urine
• Mucopolysaccharide (Glykosaminoglykane / GAG, total)

O

• Oligosaccharide (Glycosaminoglycans / GAG, total)
• Omega-3-fatty acids
• Omega-6-fatty acids
• Organic acids in urine (quantitative)
• Orotic acid in urine
• Oxalic acid in urine

P

• Phytanic acid
• Pipecolinic acid (CDG-Transferrin) in plasma
• PKU-Profile (Phenylalanine, Tyrosine and Quotient)
• Pterine (Neopterin und Biopterin)
• Purines/pyrimidines in urine
• Pyruvate kinase

S

• Sanfilippo (A-D) test
• Very long chain fatty acids (VLCFA)
• Sterols in serum
• Succinyl-CoA: 3-Ketoacid CoA-Transferase deficiency
• Succinylacetone

V

• Vitamin A
• Vitamin B1 as thiamine pyrophosphate
• Vitamin B12
• Vitamin B2 as flavin dinucleotide (FAD)
• Nicotinamid (Niacin)
• Pantothenic acid, free
• Vitamin B6 as pyridoxal phosphate
• Vitamin D3 (1,25-Dihydroxy Cholecalciferol)
• Vitamin D3 (25-Hydroxy-Cholecalciferol)
• Vitamin E
• Vitamin K1

Z

• Zinc protoporphyrin