fructose-16-bisphosphatase deficiency
- fructose-16-bisphosphatase deficiency
- fruc·tose-1,6-bis·phos·pha·tase de·fi·cien·cy (frookґtōs bis-fosґfə-tās″) an autosomal recessive disorder caused by mutations in the FBP1 gene (locus: 9q22.2-q22.3), which encodes hepatic fructose-1,6-bisphosphatase. It is marked by apnea, hyperventilation, hypoglycemia, ketosis, and lactic acidosis resulting from impaired gluconeogenesis due to deficiency of the enzyme; it may be fatal to untreated newborns but once past early childhood, patients develop normally.
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fructose-bisphosphatase — A hydrolase that catalyzes conversion of fructose 1,6 bisphosphate to d fructose 6 phosphate and orthophosphate in gluconeogenesis; AMP is an allosteric inhibitor; f. deficiency results in problems with impaired gluconeogenesis; there is a… … Medical dictionary
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