title: Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.
abstract: Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or induced by fructose) and may also be life-threatening. FDPase deficiency can be suspected using simple bedside tests such as glucometer random blood sugar, Benedict's test, Rothera's test and Seliwanoff's test. We report our experience with two cases of FDPase deficiency and review the relevant literature. We also describe the fructosuria in these cases during the crises period, which has not been stressed in the literature.
authors.affiliation: J N Medical College, Belgaum, Karnataka, India.
authors.forename: Mahesh
authors.initials: M
authors.lastname: Kamate
authors.affiliation: J N Medical College, Belgaum, Karnataka, India.
authors.forename: Milind
authors.initials: M
authors.lastname: Jambagi
authors.affiliation: J N Medical College, Belgaum, Karnataka, India.
authors.forename: Prashanth
authors.identifier: http://orcid.org/0000-0002-4024-905X
authors.initials: P
authors.lastname: Gowda
authors.affiliation: J N Medical College, Belgaum, Karnataka, India.
authors.forename: Smita
authors.initials: S
authors.lastname: Sonoli
mesh_terms: D000140:Acidosis, Lactic / Q000209:etiology; D002675:Child, Preschool; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007657:Ketone Bodies / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D008297:Male
chemical_list: D007657:Ketone Bodies; D019344:Lactic Acid