Rare Disease Library

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

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

Lysosomal acid phosphatase deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

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