Liver-Based Metabolic Diseases

Disease	Defect	Inheritance	Liver failure	
1-Antitripsin deficiency 	1-Antitripsin	Codominant	Yes	
Wilson’s disease 	Biliary copper excretion	Autosomal recessive	Yes	
Tyrosinemia 	Fumarylacetoacetate hydrolase	Autosomal recessive	Yes	
Urea cycle defects 	Ornithine carbamoyltransferase	X-linked dominant	No	
	Carbamoyl phosphate synthetase	Autosomal recessive	No	
	Argininosuccinate synthetase	Autosomal recessive	No	
Galactosemia 	Galactose 1-phosphate uridyltransferase	Autosomal recessive	Yes	
Glycogen storage diseases 				
Type IA	Glucose 6-phosphatase	Autosomal recessive	No	
Type IV	Brancher enzyme	Autosomal recessive	Yes	
Familial hypercholesterolemia type IIA 	LDL receptor	Autosomal recessive	No	
Gaucher’s disease 	Glucocerebrosidase	Autosomal recessive	Yes	
Niemann-Pick disease 	Sphingomyelinase deficiency	Autosomal recessive	Yes	
Wolman’s disease 	Acid lipase	Autosomal recessive	No	
Cholesterol ester storage disease 	Acid lipase	Autosomal recessive	Yes	
Crigler-Najjar syndrome type I 	Uridine diphosphoglucuronyl transferase	Autosomal recessive	No	
Cystic fibrosis 	Chloride ion transporter gene	Autosomal recessive	Yes	
Hyperoxaluria type I 	 Alanine-glyxylate aminotrasferase	Autosomal recessive	No	
Defects of mitochondrial function	Acyl CoA dehydrogenase, Reye’s syndrome	Autosomal recessive	Yes	
Mucopolysaccharidoses 	Lysosomal storage disease	Autosomal recessive	Yes	
Neonatal iron storage disease 	Unknown	Variable	Yes	
Hemophilia				
Type A	Factor VIII	X-linked	No	
Type B	Factor IX	X-linked	No	
Protein C deficiency	Protein C	Autosomal recessive	No	
Disorders of bile acid synthesis 	Unknown	Variable	Yes