Table 1.

Biochemical investigations in metabolic diseases presenting with hematological phenotype.

Basic tests	Profiles	Other tests
Full blood count	Amino acids incl. homocysteine (P)	Iron (S)
Blood film	Organic acids (U)	Transferrin (S)
Reticulocytes (B)	Acylcarnitines (DBS, P)	Ferritin (S)
ASAT/ALAT (P)	Sialotransferrins (S)	Copper (S, U)
CK (P)	Sterols (P)	Ceruloplasmin (S)
CRP (P)	Bile acids (U)	Zinc (S, U)
Lactate (P)	Oligosaccharides (U)	Manganese (B)
Glucose (P)	Mucopolysaccharides (U)	Lysosomal Enzymes (S)
Ammonia (B)	VLCFA (P) Polyols (P, U) Immunoglobulins (P) Porphyrins (U, RBC) Lipid panel (S)	Vitamins (S) Flavins (B) SAM & SAH (P) Coagulation factors Glutathione (RBC, P) Dihydroxyacetone phosphate (RBC)