Rare Disease Library

Mevalonate kinase deficiency

MKD

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Glycerol kinase deficiency, infantile form

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase deficiency

PDH · PDHC

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Trehalase deficiency

Isolated trehalose intolerance

Xp21 deletion syndrome

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