Rare Disease Library

Lysosomal acid phosphatase deficiency

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

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple carboxylase deficiency

MCD

Myeloperoxidase deficiency

MPO deficiency

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase 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

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sanfilippo syndrome type D

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

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trehalase deficiency

Isolated trehalose intolerance

Triose phosphate-isomerase deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

Xanthinuria type I

XDH deficiency · XO deficiency