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Fructose-1,6-Diphosphatase Deficiency

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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.  an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FDP DEFIC    Other names Hexosediphosphatase Deficiency; Fructose-Biphosphatase Deficiency; Fructose-1,6-Bisphosphatase Deficiency; Hexosediphosphatase Deficiencies; Fructosediphosphatase Deficiencies; Fructose-Biphosphatase Deficiencies; Fructose-1,6-Diphosphatase Deficiencies; Fructose-1,6-Bisphosphatase Deficiencies; Fructose Biphosphatase Deficiency; Fructose 1,6 Bisphosphatase Deficiency; Deficiency, Fructosediphosphatase; Deficiency, Fructose-Biphosphatase; Deficiency, Fructose-1,6-Diphosphatase; Deficiency, Fructose-1,6-Bisphosphatase; Deficiencies, Hexosediphosphatase; Deficiencies, Fructosediphosphatase; Deficiencies, Fructose-Biphosphatase; Deficiencies, Fructose-1,6-Diphosphatase; Deficiencies, Fructose-1,6-Bisphosphatase; Fructosediphosphatase Deficiency
 
SubstanceCAS Registry & nameCategoriesSource
Baker-Winegrad disease  0   *Fructose-1,6-Diphosphatase Deficiency.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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