| FRUCTOSE INTOLERANCE, HEREDITARY (HFI) | |
| FRUCTOSE INTOLERANCE, HEREDITARY; FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY; ALDB; ALDOLASE B DEFICIENCY | |
|
229600
OMIM = Online Mendelian Inheritance of Men | |
|
469 | |
| fructose 1,6-biphosphate aldolase B | |
| 4.1.2.13 | |
| 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] | |
| Laboratory findings | Glycerol inc (urine) D-Glucose dec (blood) D-Glucose dec (plasma) Fructose inc (blood) Fructose inc (urine) Fructose 1,6-biphosphate aldolase dec (kidney) Fructose 1,6-biphosphate aldolase dec (liver) Fructose 1,6-biphosphate aldolase dec (small intestine) L-Lactic acid inc (blood) Magnesium inc (serum) Phosphate dec (serum) reducing substances, urine (Clinitest) inc (urine) Transaminases (ASAT/ALAT) inc (serum) Uric acid inc (urine) Uric acid normal/inc (plasma) |
| Symptoms | failure to thrive hepatomegaly (large liver) vomiting cirrhosis or fibrosis of liver feeding difficulties, poor feeding hypoglycemia liver failure liver involvement or dysfunction pain, abdominal steatorrhea tubulopathy Amino acids, urine bleeding tendencies, hemorrhages Coagulopathy/Coagulation factors coma Fanconi syndrome jaundice lactic acidosis lethargy, drowsiness, apathy mental retardation metabolic acidosis nausea onset, adolescent onset, childhood onset, infancy prominent abdomen renal dysfunction, renal defects seizures sweating thrombopenia, thrombocytopenia |