Rare Disease Library

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Carnosinase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Glycerol kinase deficiency

Glycerol kinase deficiency, adult form

Heme oxygenase-1 deficiency

HO-1 deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Isolated glycerol kinase deficiency

Hyperglycerolemia

Mevalonate kinase deficiency

MKD

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Neurometabolic disorder due to serine deficiency

Serine deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome