Table 2.

Report	Age at presentation	Age at diagnosis	Genotype	Other abnormalities	Transaminase elevation	Liver biopsy findings	Extramedullary hematopoeisis	Treatments	Outcome
Hinson et al (1998)	Perinatal	2 months	ND	None noted	Yes (moderate)	Chronic active cholestatic hepatitis	Cutaneous	unknown	Hypotonia, FTT
	Prenatal	Unknown	ND	Hypospadias, frontal bossing, low-set ears, down-slanted palpebral fissues, long eyelashes	Yes (moderate)	Marked cholestatis, portal fibrosis	Hepatic	Unknown	Died DOL 87
Raupp et al (2004)	Prenatal	Post- mortem	ND	None noted	No	ND	No	Antibiotics	Died DOL 15
	Prenatal	DOL 20	L35S homozygote	None noted	No	ND	No	Antibiotics	Died 2 months
Steiner et al (2011)	Prenatal	Post- mortem	I268T homozygote	Ventriculomegaly, short limbs, frontal bossing, cardiomegaly	unknown	Marked fibrosis with bile plugging	Cutaneous, lungs, liver, kidneys, adrenals	Antibiotics	Died DOL 20
Chaudhury et al (2012)	Prenatal	2 weeks	I268T V310M	Aortic stenosis	Unknown	Micronodular cirrhosis	No	Anakinra, HSCT	OLT age 4, normal growth and typically developing age 8

Clinical characteristics, liver findings and outcome of reported patient with MKD and cholestatic liver disease