Rare Disease Library

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia