Rare Disease Library

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

3-hydroxyisobutyric aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Fumaric aciduria

Fumarase deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Organic aciduria

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria

Urocanic aciduria

Encephalopathy due to urocanase deficiency