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Disorders of gluconeogenesis
Author(s) -
Berghe G.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799108
Subject(s) - gluconeogenesis , human genetics , metabolic disease , medicine , biology , biochemistry , metabolism , gene
Summary Gluconeogenesis, or the formation of glucose from mainly lactate/pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic — gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose‐1,6‐bisphosphatase, and glucose‐6‐phosphatase. In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose‐1,6‐bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.