Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Table 1 Summary of the mutations reported in the AKR1D1 gene and patient prognoses

Variant	Zygotic type	Age	Sex	Treatment	Outcome	INR	Ref.
c.662C > T (p. P198L)	Homozygote	8 mo	F	CDCA 8 mg/kg/d CA 8 mg/kg/d	Alive and well	1.00	[7]
c.511delT (frameshift)	Homozygote	8 wk	M	CDCA 8 mg/kg/d CA 8 mg/kg/d	Liver transplantation; alive and well	1.40
c.385C > T (p. L106F)	Homozygote	6 wk	F	UDCA 60 mg/d CDCA 30 mg/d	Liver transplantation and died	2.00
c.467C > G (p. P133R) c.850C > T (p. R261C)	Heterozygote	8 mo	F	CA 10 mg/kg/d	Alive and well	/	[10]
c.737G > A (p. G223Q)	Heterozygote	3 mo	F	UDCA 5-10 mg/kg/d	Alive and well	/	[8]
c.217C > T (Arg50 stop)	Heterozygote	2 mo	F	CDCA 12 mg/kg/d	Liver transplantation	/
c.850C > T (p.R261C)	Homozygote	6 mo	/	CA 8 mg/kg/d	Died	2.50	[1]
c.797G > A (p. R266Q)	Heterozygote	11 mo	M	UDCA 40 mg/kg/d	Alive and well	/	[13]
c.396C > A (nonsense mutation) c.722A >T (p. D241V)	Heterozygote	11wk	M	UDCA 40 mg/kg/d for 4 mo; CDCA 25 mg/kg/d	Alive and cerebral dysplasia	/
c.866G > A (p. R266Q)	Heterozygote	6 mo	M	UDCA 7.5 mg/kg/d; CDCA 5 mg/kg/d	Alive and well	/	[12]
c.737G >A (p. G223E) c.850C >T (p. R261C)	Heterozygote	8 mo	F	UDCA 7.5 mg/kg/d; CDCA 10 mg/kg/d	Alive and well	/
c.587delG (frameshift)	Homozygote	9 wk	F	UCDA	Died	/	[11]
c.587delG (frameshift)	Homozygote	6 mo	F	UCDA	Died	/
c.587delG (frameshift)	Homozygote	5 wk	F	CA 15 mg/kg/d	Alive and well	/
c.579 + 2delT, c.853C > T (p. Q285X)	Heterozygote	8 mo	M	CDCA	Alive and well	/	[9]

/: No data; CA: Cholic acid; CDCA: Chenodeoxycholic acid; INR: International normalized ratio; UDCA: Ursodeoxycholic acid; F: Female; M: Male.