Diagnostics (a-z)
A
- AcetylCoA-glucosamine acetyltransferase
- Acid Lipase
- Acyl-CoA oxidase 1 (ACOX1)
- Acylcarnitine: Isomer separation
- Acylcarnitines
- Adenosine Deaminase (ADA)
- Adenosine Deaminase 2 (ADA2)
- alpha-Aminoadipic semialdehyde (α-ASA)
- α-D-galactosidase
- α-D-glucosidase
- α-D-mannosidase
- α-L-fucosidase
- α-L-iduronidase
- Amino acids
- Aromatic-L-amino acid decarboxylase (AADC) *
- Arylsulfatase A
- Arylsulfatase A+B
- Arylsulfatase B
- Aspartylglucosaminidase
B
C
- Cardiolipins
- Carnitine/acylcarnitine transporter (CACT)
- Carnitine biosynthesis intermediates *
- Carnitine palmitoyltransferase 1 (CPT1)
- Carnitine palmitoyltransferase 2 (CPT2)
- Ceramidetrihexoside (CTH, Gb3) *
- C26:0-carnitine
- Chitotriosidase (Gaucher)
- Cholestanol
- C26:0-Lyso-PC (blood)
- C26:0-Lyso-PC (fibroblasts)
- Complementation testing
- Creatine and guanidinoacetic acid
D
E
F
G
H
I
J
K
L
M
- Malondialdehyde *
- Medium-chain acyl-CoA dehydrogenase (MCAD)
- 3-Methyl-crotonyl-CoA carboxylase (MCC)
- 3-Methyl-glutaconyl-CoA hydratase (MGH)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD)
- Methylmalonate semialdehyde dehydrogenase (MMSDH)
- Methylmalonic acid
- 5-Methyltetrahydrofolate
- Mevalonate kinase (MVK)
- Mevalonic acid
- Mitochondrial trifunctional protein (MTP) deficiency
- Myristate β-oxidation (flux assay)
N
O
P
- Palmitoyl-protein thioesterase
- Peroxisomal β-oxidation
- Peroxisomal thiolase branched-chain specific (SCPx)
- Phenolic acids
- Phenylalanine
- Phosphoribosylpyrophosphate synthetase (PRPPs)
- Phytanic acid α-oxidation
- Phytanic and pristanic acid
- Pipecolic acid
- Plasmalogens
- Plasmalogens
- Plasmamembrane carnitinetransporter (OCTN2)
- Polyols and sugars
- Propionyl-CoA carboxylase (PCC)
- Protective protein / Cathepsine A
- Pterins
- Purine Nucleoside Phosphorylase (PNP)
- Purines
- Pyridoxal phosphate (B6 vitamers)
- Pyrimidine biosynthesis intermediates
- Pyrimidines
- Pyruvate kinase (PK)
Q
R
S
- S-adenosylmethionine and S-adenosylhomocysteine (SAM / SAH) *
- Short branched-chain acyl-CoA dehydrogenase (SBCAD)
- Short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD)
- Short-chain acyl-CoA dehydrogenase (SCAD)
- Short-chain enoyl-CoA hydratase/Crotonase (ECHS1)
- Sialic acid
- Sialotransferrins
- Sphingomyelinase
- Steroid sulfatase (arylsulfatase C, ARYC)
- Sterol profiling *
- Sterols
- Succinylacetone
- Succinyl-CoA: 3-oxoacid transferase (SCOT)
- Sulfamidase
- Sulfatides
- Sulphite and thiosulphate