Disorder

Sample

Adenine phosphoribosyltransferase (APRT), DHA Lithiasis

WB EDTA, U

Adenosine deaminase (ADA) deficiency

WB EDTA, S, F, U, CVS

Adenosine deaminase (ADA) (tuberculosis marker)

AF, PF, CF, S

Adenylate deaminase (muscle AMP deaminase)

WB EDTA

Adenylosuccinase deficiency 

WB EDTA, U

CDP-choline phosphotransferase deficiency

WB EDTA

Dihydropyrimidine dehydrogenase (DPD) deficiency 

WB EDTA, S, F, U

Dihydropyrimidinase deficiency (DPA) 

WB EDTA, U

Familial juvenile gout 

WB EDTA, U

Hereditary orotic aciduria (UMP synthase deficiency) 

WB EDTA, U

Hereditary xanthinuria

WB EDTA, U

Hypoxanthine guanine phosphoribosyltransferase deficiency (HPRT)
(Lesch-Nyhan, partial)

WB EDTA, S, F, U, CVS

ITP pyrophosphohydrolase deficiency 

WB EDTA

Methylthioadenosine phosphorylase deficiency 

WB EDTA

Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity 

WB EDTA, U

Purine nucleoside phosphorylase (PNP) deficiency 

WB EDTA, U

Pyrimidine 5' nucleotidase deficiency (UMP hydrolase 1) 

WB EDTA

S-adenosyl-homocysteine hydrolase (SAH) deficiency 

WB EDTA

Thiopurine methyl transferase (TPMT) deficiency 

WB EDTA

Xanthine dehydrogenase deficiency, 

U

Xanthine oxidase with sulphite oxidase deficiency (molybdenum cofactor) 

U