Table 2.

Biochemical investigations in metabolic liver disease. Amino acids analysis includes homocysteine, organic acid analysis includes methylmalonic acid, very-long chain fatty acids (VLCFA) include phytanic and pristanic acid.

Chemistry	Profiles	Special tests
Blood count	Amino acids (P, U)	Copper (S, U)
Coagulation factors	Organic acids (U)	Ceruloplasmin (S)
Urinalysis*	Acylcarnitines (DBS, P)	LS-Enzymes (DBS)
Lipid panel (S)	Porphyrins (U, P, RBC)	Alpha-fetoprotein (S)
Ammonia (B)	VLCFA (P)	SAH & SAM (P)
Glucose (P)	Sialotransferrins (S)	Sulfatides (U)
Lactate (P, CSF)	Purines (U)	Vitamins A, D, E, K (S)
Total/direct bilirubin (S)	Oligosaccharide (U)	Galactose-1-P (RBC)
Iron (S)	Bile acids (S, U)	Manganese (B)
Ferritin (S)	Sterols (P)
AST/ALT (P)
GGT (P)
ALP (P)
CK (P)

^*Dipstick urine chemistry