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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

Preferred term

Fructose-1,6-Diphosphatase Deficiency  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Synonym(s)

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

Allowable Qualifier(s)

In other languages

URI

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

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