Rare Disease Library

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

2-methylbutyryl-CoA dehydrogenase deficiency

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

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Thiamine-responsive maple syrup urine disease

Thiamine-responsive BCKD deficiency · Thiamine-responsive MSUD

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD