Table 2.

Blood biochemical investigation of patients with DGUOK mutation

Parameter	Normal values	P1	P2	P3	Total of abnormal values
Lactate (mmol/l)	0.7–2.1	7.6	10.9	4.0	3
L/P ratio	10–15	32	40	28	3
Glycaemia (mmol/l)	4.2-6.1	2.1	3.3	2.0	3
AST (UI/l)	<50	151	95	359	3
ALT (UI/l)	<45	655	198	237	3
γGT(U/l)	12–58	199	43	480	2
Bilirubin (µmol/l)
Total	<22	140	214	192	3
Conjugated	<5	61	126	22	3
Ammonaemia (µmol/l)	21–50	27	65	149	2
Albumin (g/l)	34–42	27	25	18	3
PTT (%)	24–50	>60	90	115	3
INR		>6.0	3.3	3.0	3
Factor V/VII (%)	48–132/39–143	56/12	32/7	13/10	3
Ferritin (ng/ml)	9–120	789	1931	1500	3
AFP (U/ml)	<30	88970	35405	302300	3
Tyrosine (µmol/l)	28–96	68	538	543	2
Creatine kinase (U/l)	60–305	218	42	166	1

AFP, α-fetoprotein; ALT, alanine aminotransferase; AST, aspartate aminotransferase; γGT, γ glutaryl transferase; INR, international normalised ratio; L/P, lactate/pyruvate ratio; P1, patient 1; P2, patient 2; P3, patient 3; PTT, prothrombin time test.

Abnormal values are in bold