Rare Disease Library

Thiamine-responsive maple syrup urine disease

Thiamine-responsive BCKD deficiency · Thiamine-responsive 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

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

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