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Fructose-1,6-Diphosphatase Deficiency

"Fructose-1,6-Diphosphatase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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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.


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This graph shows the total number of publications written about "Fructose-1,6-Diphosphatase Deficiency" by people in this website by year, and whether "Fructose-1,6-Diphosphatase Deficiency" was a major or minor topic of these publications.
Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 1995
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