Rare Disease Library

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

2-methylbutyryl-CoA dehydrogenase deficiency

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

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

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

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

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Adult Refsum disease

Classic Refsum disease · HMSN 4

Apparent mineralocorticoid excess

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

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency

CIMAH · Methylenetetrahydrofolate dehydrogenase 1 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 4

2-methylacyl-CoA racemase deficiency · AMACR 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 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

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

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

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

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

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

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD