Rare Disease Library

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

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

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

GM3 synthase deficiency

ST3GAL5-CDG

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Lipoic acid synthetase deficiency

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency