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Summary
FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY
FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY
229700
OMIM = Online Medalian Inheritance of Men
348
9q22.32
  • avoidance of fasting
  • cornstarch, uncooked
  • glucose infusion (acute)
  • insulin
  • sodium bicarbonate
rare
autosomal recessive
diagnosis: fructose tolerance test (adequate monitoring, exclude hereditary fructose intolerance before! liver biopsy (leukocytes)
symptoms
cardiac arrest
cataract
coma
early death
hematemesis
hepatomegaly (large liver)
hypoglycemia
hypotonia
irritability
ketosis
lactic acidosis
metabolic acidosis
onset, infant
onset, newborn
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
3-Hydroxybutyric acid4.0048.00 mmol/mol creatinineurineno data
Lactate3.005.000.701.90mmol/lblood
Glucose0.501.002.803.80mmol/lserum
Ketone bodies4.0010.00 mmol/lblood
Uric acid 0.605.50increasedserum
Alanine 143.00439.00increasedplasma
Fructose 1,6 biphosphatase 100.00decreased activityliver
Ketone bodies0.000.00 +/++urineno data
pH7.007.357.357.45no unitblood
EEG abnormalities -
Glycerol 0.0040.00increasedurine
Ketone bodies0.000.00 increasedurineno data
Literature
Mudd SHet al.Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemiaJ Inherit Metab Dis240448-4642001
Simmonds HAet al.Hereditary xanthinuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201781-17951995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994