Rare Disease Library

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Hyper-beta-alaninemia

Hyperalaninemia

Hyperlipoproteinemia type 1

HLP type 1

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Rotor syndrome

Hyperbilirubinemia, Rotor type

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency