Rare Disease Library

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

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

3-hydroxyacyl-CoA dehydrogenase deficiency

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase 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

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency

CIMAH · Methylenetetrahydrofolate dehydrogenase 1 deficiency

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase 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

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fucosidosis

Alpha-L-fucosidase 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

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

Intermittent maple syrup urine disease

Intermittent BCKD deficiency · Intermittent MSUD

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 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

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

Pentosuria

Essential pentosuria · Xylitol dehydrogenase deficiency

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

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 E3-binding protein deficiency

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