1.3.e

Disorders of pentose metabolism

  • Glucose-6-phosphate dehydrogenase deficiency
  • Ribose 5-phosphate isomerase deficiency
  • Transaldolase deficiency
  • Transketolase deficiency (Short stature, developmental delay, and congenital heart defects)
  • Sedoheptulose kinase deficiency
  • L-xylulose reductase deficiency (Pentosuria; xylitol dehydrogenase deficiency)
  • L-arabinosuria

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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