Rare Disease Library

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

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

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase 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

Dopamine beta-hydroxylase deficiency

DBH 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

Heme oxygenase-1 deficiency

HO-1 deficiency

HSD10 disease

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

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

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

Maple syrup urine disease

BCKD deficiency · BCKDH deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase 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 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