Clinical and biochemical observations on three cases of fructose‐1,6‐diphosphatase deficiency

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

“…Fasting and febrile episodes are known to trigger these symptoms during infancy and childhood. Gas chromatography-mass spectrometry (GC/MS) analysis of urinary organic acids during a spell can be especially helpful when diagnosing FBPase deficiency, because the appearance of glycerol or glycerol-3-phosphate in the urine is characteristic of this disease (Dremsek et al 1985;Burlina et al 1990;Nakai et al 1993). For this method, organic solvent extraction is usually employed for the pretreatment of samples, because target substances such as organic acids are easily collected and contamination of GC column can be prevented (Kimura et al 1999).…”

Fructose 1,6 diphosphatase deficiency in a Turkish infant

“…In addition, in order to prevent hypoglycemia and metabolic acidosis, uncooked cornstarch (2 g/kg) has been shown to be useful in three patients with FDPase deficiency [3]. The nutrition of our patient has been adjusted according to this recommendation.…”

“…This test provides an important and noninvasive method to diagnose FDPase deficiency [3,7]. FDPase deficiency has a less severe course because glycolysis is intact.…”

“…In the absence of FDPase, the organism depends on alimentary glucose and glycogenolysis to maintain a normal blood glucose level [4]. FDPase deficiency is an autosomal recessive inherited disease [2,6], resulting in life-threatening attacks of hypoglycemia, associated with metabolic acidosis and hyperuricemia [3,4,5,6,7]. In early infancy these attacks are triggered by infections, vomiting, or food containing fructose [2,6].…”

Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients

“…These patients were from Dr. Burlina, University of Padua. These were the cases i and 3 reported elsewhere [5].…”