Here I present: “Hereditary Fructose Intolerance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALDOB) 飲食果糖不耐症。icd10=E74.12
INTRODUCTION.
Hereditary fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet’. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits.
There is evidence that hereditary fructose intolerance is caused by homozygous or compound heterozygous mutation in the aldolase-B gene (ALDOB) on cytogenetic location 9q31.1 and genomic coordinate 9:101,420,560.
