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Concept information

... > 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

Terme préférentiel

Fructose-1,6-Diphosphatase Deficiency  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 31/05/1988, dernière modification le 03/07/2012