Liver cell transplantation for Crigler-Najjar syndrome type I: Update and perspectives

Table 2 Summary of clinical liver cell transplantation procedures for liver-based inborn errors of metabolism

Indication	n	Patient age	Cell amount (% liver cell mass)	Follow-up	References
Familial hypercho-lesterolemia	5	7-41 yr		Partial reduction of LDL (3/5 patients)	69
				Donor hepatocytes detected by ISH at 4 mo
CN disease type I	1	10 yr	7.5 × 109 (5%)	Decrease of bilirubin levels up to 11 mo	14
				Detection of UGT1A1 enzyme activity and of glucurono-conjugates in bile
	1	9 yr	7.5 × 109 (5%)	50%-65% reduction of bilirubin up to 3 mo	34
				Donor hepatocytes not detected by short tandem repeat analysis at 40 d
	2	18 mo/3 yr	ND	50%/30% reduction of serum bilirubin over 7 mo/ND follow-up	33
				Donor hepatocytes detected in one case by short tandem repeat analysis at 8 mo
Infantile refsum disease	1	4 yr	2 × 109	Donor Y-chromosomes detected by PCR at 7 d	20
Inherited coagulation factor VII deficiency	2	3 mo/2 yr	1.1 × 109/2.2 × 109 (4%/3%)	Decrease in the factor VII requirements	19
PFIC 2	2	ND	0.3 × 109	No improvement	33
Glycogen storage disease type Ia	1	47 yr	2 × 109(1%)	Fasting tolerance: up to 7 h	18
				Increase of glycemia
				Improvement of diet
				G6Pase activity detected
Urea cycle disease	1 (OTC)	5 yr	1 × 109	Improvement of ammonia levels	70
				Detection of enzyme activity
	1 (OTC)	0 d	10.5 × 109	Transient metabolic improvement between 20 and 31 d of life	71
	1 (OTC)	1 d	1.9 × 109	Improvement of ammonia levels	72
				Increased urea synthesis
	1 (OTC)	14 mo	2.4 × 109 (6%)	Improvement of psychomotor development and of ammonia levels	16
				Urea neo-synthesis
	1 (ASL)	3.5 yr	4.7 × 109 (9%)	Improvement of psychomotor development and of ammonia levels	17
				Donor hepatocytes detected by FISH at 12 mo and by enzyme activity at 8 mo

ASL: Arginino-succinate lyase; (F)ISH: (Fluorescent) in situ hybridization; LDL: Low density lipoproteins; ND: Not documented; OTC: Ornithine transcarbamylase; PCR: Polymerase chain reaction; PFIC: Progressive familial intrahepatic cholestasis.