TABLE 1.

Liver-and kidney-related laboratory results of presented patients

Family no.	Patient no.	PT, s	Albumin, g/dL	Total bilirubin, mg/dL	Ammonia, μmol/L	ALT, U/L	AST, U/L	AP, U/L	GGT, U/L	Creatinine clearance, mL · min−1 · 1.73 m−2	Cystatin C, mg/L	WBC counts, K/μL	Hb, g/dL	PLT counts, K/μL
1	II-3	12.2	4.1	0.9	20	20	19	134	24	Transplant	Transplant	3.5	14.1	147
1	III-1	15.7	4	1	58	32	31	199	27	143	0.55	5.36	12	229
1	III-2	15.1	3.8	0.6	28	20	19	228	15	105	0.58	4.29	12.2	265
1	III-3	15.3	4.1	0.5	26	24	16	124	28	121	0.68	3.15	15.4	115
2	II-2	13.5	3.7	0.5	47	30	46	57	26	105	0.92	3.2	12	87
2	III-1	13.1	4	0.7	NA	18	19	67	17	118	0.59	6.8	14.8	239
2	III-2	NA	4.4	1.7	NA	15	21	165	10	NA	0.93	4.5	15.3	223
3	II-2	16.8	3.4	1.2	77	12	19	61	21	53	1.84	2.77	11	64
Normal values	11.6–15.2	3.7–4.7	0.1–1.0	11–32	6–41	9–34	37–375*	7–38	90–125	0.55–1.03	3.3–9.6	12.7–16.7	154–345

ALT = Alanine aminotransferase; AP = alkaline phosphatase; AST = aspartate aminotransferase; GGT = γ-glutamyltransferase; Hb = hemoglobin; PLT = platelets; PT = prothrombin time; WBC = white blood cell.

^*Normals vary by age within this range.