Biomaterial Database

Hepatic metabolites and uric acid excretion in fructose-1,6-diphosphatase deficiency. 1988

A Velázquez, and C DeCéspedes, and D C DeVivo, and G Costin, and K N Shaw

Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomedicas UNAM, México DF, México.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D001774	Blood Chemical Analysis	An examination of chemicals in the blood.	Analysis, Blood Chemical,Chemical Analysis, Blood,Analyses, Blood Chemical,Blood Chemical Analyses,Chemical Analyses, Blood
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014527	Uric Acid	An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.	2,6,8-Trihydroxypurine,Ammonium Acid Urate,Monosodium Urate,Monosodium Urate Monohydrate,Potassium Urate,Sodium Acid Urate,Sodium Acid Urate Monohydrate,Sodium Urate,Sodium Urate Monohydrate,Trioxopurine,Urate,Acid Urate, Ammonium,Acid Urate, Sodium,Acid, Uric,Monohydrate, Monosodium Urate,Monohydrate, Sodium Urate,Urate Monohydrate, Monosodium,Urate Monohydrate, Sodium,Urate, Ammonium Acid,Urate, Monosodium,Urate, Potassium,Urate, Sodium,Urate, Sodium Acid
D015318	Fructose Metabolism, Inborn Errors	Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
D015319	Fructose-1,6-Diphosphatase Deficiency	An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.	Fructose-1,6-Bisphosphatase Deficiency,Fructose-Biphosphatase Deficiency,Hexosediphosphatase Deficiency,Deficiency, Hexosediphosphatase,Fructose 1,6 Diphosphatase Deficiency,Fructosediphosphatase Deficiency,Deficiencies, Fructose-1,6-Bisphosphatase,Deficiencies, Fructose-1,6-Diphosphatase,Deficiencies, Fructose-Biphosphatase,Deficiencies, Fructosediphosphatase,Deficiencies, Hexosediphosphatase,Deficiency, Fructose-1,6-Bisphosphatase,Deficiency, Fructose-1,6-Diphosphatase,Deficiency, Fructose-Biphosphatase,Deficiency, Fructosediphosphatase,Fructose 1,6 Bisphosphatase Deficiency,Fructose Biphosphatase Deficiency,Fructose-1,6-Bisphosphatase Deficiencies,Fructose-1,6-Diphosphatase Deficiencies,Fructose-Biphosphatase Deficiencies,Fructosediphosphatase Deficiencies,Hexosediphosphatase Deficiencies