Rare Disease Library

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Medium chain acyl-CoA dehydrogenase deficiency

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

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

NAD(P)HX dehydratase deficiency

CARKD deficiency

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

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

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Porphyria due to ALA dehydratase deficiency

ALAD porphyria · Porphyria due to ALAD deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Prolidase deficiency

Hyperimidodipeptiduria

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Pterin-4 alpha-carbinolamine dehydratase deficiency

Hyperphenylalaninemia due to dehydratase deficiency · Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase 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

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Trehalase deficiency

Isolated trehalose intolerance

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria