Rare Disease Library

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

GM3 synthase deficiency

ST3GAL5-CDG

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Lipoic acid synthetase deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency