Rare Disease Library

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Fumaric aciduria

Fumarase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

L-2-hydroxyglutaric aciduria

L-2-HGA · L-2-hydroxyglutaric acidemia

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Organic aciduria

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Urocanic aciduria

Encephalopathy due to urocanase deficiency