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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors > Fructose-1,6-Diphosphatase Deficiency
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Fructose Metabolism, Inborn Errors > Fructose-1,6-Diphosphatase Deficiency

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Fructose-1,6-Diphosphatase Deficiency  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

Concepto genérico

Etiquetas alternativas

  • Fructose 1,6 Diphosphatase Deficiency
  • Fructose-1,6-Bisphosphatase Deficiency
  • Fructose-Biphosphatase Deficiency
  • Fructosediphosphatase Deficiency

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-DB75TMGC-L

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