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Summary
FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)
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)
GC/MS after solvent extraction (...), which is a widely used
diagnostic standard, could not detect increased levels of glycerol or
glycerol-3-phosphate in the patients urine, which was sampled during
the episode. It is important to select the appropriate method of urinalysis for organic acids by GC/MS [Kato S et al. 2015]
symptoms
apnea
cardiac arrest
cataract
coma
dyspnea
early death
hematemesis
hepatomegaly (large liver)
hypoglycemia
hypotonia
irritability
ketosis, ketoacidosis
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
onset, infancy
onset, neonatal
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
3-Hydroxybutyric acid4.0048.00 mmol/mol creatinineurineno data
L-Lactic acid3.005.000.701.90mmol/lblood
D-Glucose0.501.002.803.80mmol/lserum
Ketone bodies4.0010.00 mmol/lblood
Uric acid 0.605.50normal-increasedurine, plasmachild
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 0.0040.00normal-increasedurinechild
Ketone bodies0.000.00 increasedurineno data
Glycerol-3-phosphate increasedurine
Literature
Anyaegbu E,et al.Acute intermittent porphyria: a diagnostic challengeJ Child Neurol277917-9212012
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
Plouin P,Kaminska A.Neonatal seizuresHandb Clin Neurol1110467-4762013
Allen NM,et al.The variable phenotypes of KCNQ-related epilepsyEpilepsia559e99-1052014
Hortig+ÔéČela M,et al.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutationsJ Hum Genet622185-1892017
Kumar BAcute intermittent porphyria presenting solely with psychosis: a case report and discussionPsychosomatics535494-4982012
Lee IC,Yang JJ, Li SYA KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in TaiwanJ Formos Med Assoc1169711-7192016
Cojocaru IM,et al.Acute intermittent porphyria--diagnostic and treatment trapsRom J Intern Med50133-412012