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FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)

FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY (FBP1D)
FRUCTOSE-1,6-BIPHOSPHATASE DEFICIENCY; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY
229700
OMIM = Online Mendelian Inheritance of Men
348
Fructose-1,6-bisphosphatase 1
3.1.3.11
9q22.32
E74.1
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]
Laboratory findingsGlycerol-3-phosphate inc (urine)
   3-Hydroxybutyric acid inc (urine)
   Glycerol normal/inc (urine)
    Alanine inc (plasma)
    D-Glucose dec (serum)
    Fructose 1,6 biphosphatase dec (liver)
    Ketone bodies (urine) inc (urine)
    Ketone bodies (urine) normal/inc (urine)
    Ketone bodies (urine) normal/inc (blood)
    L-Lactic acid inc (serum)
    pH normal/dec (blood)
    Uric acid normal/inc (urine)
    Uric acid normal/inc (plasma)
Symptomshepatomegaly (large liver)
hypoglycemia
tachypnea, hyperpnea, dyspnea, hyperventilation
   ketosis, ketoacidosis
    apnea
    cardiac arrest
    cataract
    coma
    dyspnea
    early death
    EEG abnormalities [-]
    hematemesis
    hypotonia
    irritability
    lactic acidosis
    lethargy, drowsiness, apathy
    metabolic acidosis
    onset, infancy
    onset, neonatal
    seizures
    vomiting