Biomaterial Database

[Congenital fructose intolerance in a 4-month-old girl]. 1987

J Rujner, and B Gruszczyńska

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D002239	Carbohydrate Metabolism, Inborn Errors	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.	Carbohydrate Metabolism, Inborn Error
D005260	Female		Females
D005633	Fructose Intolerance	An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.	ALDOB Deficiency,Aldolase B Deficiency,Fructose Aldolase B Deficiency,Fructose Intolerance, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiency,Fructose-1,6-Bisphosphate Aldolase B Deficiency,Fructose-1-Phosphate Aldolase Deficiency,Fructosemia,Hereditary Fructose Intolerance,ALDOB Deficiencies,Aldolase B Deficiencies,Aldolase Deficiencies, Fructose-1,6-Biphosphate,Aldolase Deficiencies, Fructose-1-Phosphate,Aldolase Deficiency, Fructose-1,6-Biphosphate,Aldolase Deficiency, Fructose-1-Phosphate,Deficiencies, ALDOB,Deficiencies, Aldolase B,Deficiencies, Fructose-1,6-Biphosphate Aldolase,Deficiencies, Fructose-1-Phosphate Aldolase,Deficiency, ALDOB,Deficiency, Aldolase B,Deficiency, Fructose-1,6-Biphosphate Aldolase,Deficiency, Fructose-1-Phosphate Aldolase,Fructose 1 Phosphate Aldolase Deficiency,Fructose 1,6 Biphosphate Aldolase Deficiency,Fructose 1,6 Bisphosphate Aldolase B Deficiency,Fructose Intolerances,Fructose Intolerances, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiencies,Fructose-1-Phosphate Aldolase Deficiencies,Fructosemias,Hereditary Fructose Intolerances,Intolerance, Fructose,Intolerances, Fructose
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man