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GENATLAS PHENOTYPE

last update : 29-11-2019

Symbol	ALDOB
Location	9q31.1
Name	fructose intolerance, hereditary
Corresponding gene	ALDOB
related resource	Hereditary Fructose Intolerance/Aldolase
Main clinical features	characterized by vomiting, nausea, sweating associated with hypoglycemia and metabolic acidosis after exposure ef dietary fructose after weaning, leading to chronic toxicity and cirrhosis of liver in case of persistent intake impaired function of liver aldolase (B isoform) is a disease of carbohydrate metabolism that can result in hyperuricemia, hypoglycemia, liver and kidney failure, coma, and death (PMID: 21166391))
Genetic determination	autosomal recessive
Prevalence	1/26100
Function/system disorder	metabolism/carbohydrates
Type	disease

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