1.3.c

Disorders of glycolysis

  • Hemolytic anemia due to hexokinase deficiency
  • Hereditary motor and sensory neuropathy, Russe type (Charcot-Marie-Tooth disease type 4G)
  • Retinitis pigmentosa type 79
  • Glucokinase deficiency (Permanent neonatal diabetes mellitus; MODY type 2)
  • Glucokinase superactivity (Permanent neonatal diabetes mellitus; MODY type 2)
  • Glucose-6-phosphate isomerase deficiency
  • Muscle phosphofructokinase deficiency (Glycogen storage disease type 7; Tarui disease)
  • Aldolase A deficiency (Glycogen storage disease type 12)
  • Triose phosphate isomerase deficiency
  • Phosphoglycerate kinase deficiency
  • Muscle phosphoglycerate mutase deficiency (Glycogen storage disease type 1; DiMauro disease)
  • Enolase beta deficiency (Glycogen storage disease type 13)
  • Pyruvate kinase deficiency
  • Lactate dehydrogenase A deficiency (Glycogen storage disease type 11)
  • Lactate dehydrogenase B deficiency
  • D-lactate dehydrogenase deficiency (Hereditary D-lactic aciduria)

Subnetworks

cfao 1

C-FAO

Carbohydrate, fatty acid oxidation and ketone bodies disorders

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