Rare Disease Library

Pyruvate dehydrogenase E3-binding protein deficiency

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

2-methylbutyryl-CoA dehydrogenase deficiency

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

3-hydroxyacyl-CoA dehydrogenase deficiency

6-phosphogluconate dehydrogenase deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Complement component 3 deficiency

C3 deficiency

Dihydropyrimidine dehydrogenase deficiency

Familial pyrimidinemia

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

Sorbitol dehydrogenase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Medium chain acyl-CoA dehydrogenase deficiency

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

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Pyruvate dehydrogenase deficiency

PDH · PDHC

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Pyruvate dehydrogenase E1-beta deficiency

PDHBD · Pyruvate dehydrogenase complex E1 component subunit beta deficiency

Pyruvate dehydrogenase E2 deficiency

Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

Xanthinuria type I

XDH deficiency · XO deficiency