Rare Disease Library

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Fucosidosis

Alpha-L-fucosidase deficiency

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Medium chain acyl-CoA dehydrogenase deficiency

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

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

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Vitamin B12-unresponsive methylmalonic acidemia

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

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0