Disorders of Gluconeogenesis
Pyruvate carboxylase (PC)
Phosphoenolpyruvate carboxykinase (PEPCK)
Defects of all four gluconeogenic enzymes are known Common to all are the tendency to facile hypoglycemia induced by fasting and lactic acidosis due to failure to recycle lactate to glucose. The deficiency of G-6Pase (Chap. 5) and FBPase usually spare the brain, unless it is damaged by recurrent hypoglycemia. The deficiencies of PEPCK and PC are associated with a progressive neurodegenerative disorder which is usually fatal.
KeywordsGlycerol Lactate Proline Ketone Bicarbonate
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- 1.Taunton OD, Greene HL. Stifel FB, Hofeldt FC, Lufkin EG, Hagler L, Herman X. Herman RH (1978) Fructose 1,6-diphosphatase deficiency, hypoglycemia and response of folate therapy in a mother and her daughter. Biochem Med 19: 260Google Scholar
- 3.Baker L, Winegrad AI (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase deficiency; a 20-year follow up. Am J Dis Child 143: 140–142Google Scholar
- 6.Kinugasa A, Kusunaki T. Iwashima A (1979) Deficiency of glucose-6-phosphate dehydrogenase found in a case of fructose-1,6-diphosphatase deficiency. Pediatr Res 13: 1361–1364Google Scholar
- 7.Service FJ, Veneziale CM, Nelson RA, Ellefson RD, Go VLW (1975) Combined deficiency of glucose-6-phosphatase and fructose-1,6-diphosphatase. Studies of glucagon secretion and fuel utilization. Am J Med 64: 696–706Google Scholar
- 9.Leonard JV, Hyland K, Furukawa N, Clayton PT (1991) Mitochondrial phosphoenol pyruvate carboxykinase deficiency. Eur J Pediatr 150: 198199Google Scholar