IllnessFructose intolerance, hereditary

NGS +

Sanger

Hereditary fructose intolerance is inherited autosomal recessively. Its cause is a lack of activity of fructose-1-phosphate aldolase. As a result, fructose-1-phosphate accumulates in the liver, kidney and small intestine. Homozygous newborns remain free of symptoms as long as they do not receive any food containing fructose, i.e. usually until they are weaned from breast milk. Only then does the food usually contain fructose (fruit sugar) and sucrose (beet sugar, a compound of glucose and fructose). After eating foods containing fructose or other sugars that are metabolized via fructose-1-phosphate, severe abdominal pain, vomiting and hypoglycaemia occur. Long-term intake of fructose eventually leads to liver and/or kidney failure and death. The mutation detection rate in the ALDOB gene is very high, but does not reach 100%, so that an inconspicuous examination result does not completely rule out fructose intolerance. The rare fructose intolerance should not be confused with the relatively frequent non-hereditary fructose intolerance, which is caused by intestinal malabsorption of fructose.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK333439/

• ALDOB deficiency
• Fructosaemia (ALDOB)
• Fructose intolerance, hereditary (ALDOB)
• Hereditary fructose-1-phosphate aldolase deficiency (ALDOB)
• Hereditary fructosemia (ALDOB)