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Summary
FRUCTOSE INTOLERANCE, HEREDITARY (HFI)
FRUCTOSE INTOLERANCE, HEREDITARY FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY ALDB ALDOLASE B DEFICIENCY
229600
OMIM = Online Medalian Inheritance of Men
469
9q31.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • elimination of fructose from the diet
rare (1:20000 Switzerland)
autosomal recessive
Although HFI is a rare condition, physicians performing fructose breath hydrogen tests need to rule out HFI before testing (nutritional history, genetic testing) [Wenzel JJ et al. 2009]
symptoms
Amino acids, urine
bleeding tendencies, hemorrhages
cirrhosis or fibrosis of liver
coma
failure to thrive
Fanconi syndrome
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypoglycemia
jaundice
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver failure
mental retardation
metabolic acidosis
nausea
onset, infancy
pain, abdominal
prominent abdomen
renal dysfunction, renal defects
seizures
sweating
thrombopenia, thrombocytopenia
tubulopathy
vomiting
laboratory finding
D-Glucose 3.305.50decreasedblood
Fructose 1,6-biphosphate aldolase decreased activityliver
Fructose 1,6-biphosphate aldolase decreased activitykidney
Fructose 1,6-biphosphate aldolase decreased activitysmall intestine
Phosphorus, inorganic 1.301.90decreasedserum
Magnesium 0.701.00increasedserum
L-Lactic acid 0.901.80increasedblood
Fructose 10.0014.00increasedurine
Fructose increasedblood
reducing substances, urine (Clinitest)0.000.00 +urineno data
Transaminases increasedserum
Coagulopathy/Coagulation factors abnormalplasma
Uric acid0.000.00 increasedurineno data
Uric acid increasedplasma
D-Glucose decreasedplasma
Literature
Mathew RP,Kovacs WJShort stature in a patient with familial glucocorticoid deficiencyJ Pediatr Endocrinol Metab247569-5712011
Augoustides-Savvopoulou Pet al.Glycine N -methyltransferase deficiency: a new patient with a novel mutationJ Inherit Metab Dis260745-7592003
Thomas PMet al.Homozygosity mapping to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancyAm J Hum Genet560416-4211995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Thomas PMet al.Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancyScience2680426-4291995
Jain V,et al.Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory proteinEur J Endocrinol. 2011 Dec165(6):987-91. Epub 2011 Sep 27.1656987-9912011
Jurecka A,Jurkiewicz E, Tylki-Szymanska AMagnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literatureEur J Pediatr1711131-1382012