Rare Disease Library

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Lysosomal acid phosphatase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Pyruvate dehydrogenase E3-binding protein deficiency

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

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency