Fructose-1,6-Bisphosphatase Deficiency Community

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Brief Description

Hommes, et al., defines FDPase deficiency as “a rare, presumably autosomal recessive disorder of gluconeogenesis. … Clinical hallmarks of this disorder are hyperventilation, irritability, ketoacidosis, muscular hypotonia and hepatomegaly. Attacks are usually precipitated by fasting and intercurrent infections and can often be overcome by administration of sodium bicarbonate and glucose. Such attacks may, however, be life-threatening.” (J. Inher. Metab. Dis. 8 (1985), pp. 169-173).

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Synonyms

Fructose 1-6 Biphosphatase deficiency, Fructose 1,6-bisphosphatase, Fructose bisphosphatase deficiency Also referred to as the Baker-Winegrad syndrome. Has been misdiagnosed as Reyes syndrome, but correct diagnosis is achieved through liver biopsy.

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