Table 1.

Biochemical investigations in IMDs presenting with GI phenotype.

Basic tests	Profiles	Special tests
Blood count	Amino acids (P,U)	Copper (S,U)
ASAT/ALAT (P)	Organic acids (U)	Ceruloplasmin (S)
CK (P)	Acylcarnitines (DBS, P)	Zinc (S)
ALP (P)	Purines and pyrimidines (U, P)	Lysosomal enzymes (S)
Lactate (P)	Sialotransferins (S)	Vitamin B12/A/D/E (S)
Glucose (P)	Oligosaccharides (U)	Glutathione (RBC)
Ammonia (B)	Lipid panel (S)	5-Methyl-THF (CSF)
Bilirubin (P)	Pterins (CSF)	Oxalic acid (U, P)
Calcium (P)	Plasmalogens (RBC)	Interferon signature (B)
Magnesium (P)		IgE (S), IgG (S), IgA (S), IgM (S)
Coagulation factors