Disorders of carbohydrate metabolism
(1)
galactosemia
(2) fructose 1,6-bisphophatase deficiency
(3) hereditary fructose intolerance
(4) congenital disorder of glycosylation (type Ib with diarrhea, Ia, Ik)
(5) glycogen storage disease type IV and IX
(6) transaldolase deficiency
Disorders of amino acid metabolism
(1) tyrosinemia
(2) urea cycle defect
(3) citrin defect
(4) S-adenosylhomocysteine-hydrolase deficiency
Disorders of fatty acid oxidation
(1) long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency
(2) multiple acyl-CoA dehydrogenase deficiency
(3) carnitine-palmitoyl-transferase I and II deficiency
(4) carnitine-acylcarnitine translocase deficiency
Disorders of energy metabolism
(1) mitochondrial DNA depletion
(2) GRACILE syndrome
(3) TRMU (tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase)
(4) EFG1 (mitochondrial elongation factor G1)
Other genetic disorders:
(1) bile acid synthesis defect with cholestasis (delta-4 3-oxosteroid 5-delta reductase)
(2) mevalonic aciduria
(3) peroxisomal biogenesis disorders
(4) neonatal hemochromatosis
(5) Niemann-Pick disease type C
(6) Wolman disease (acid lipase deficiency)
(7) alpha-1 antitrypsin deficiency
(8) cerebrotendinous xanthomatosis
