ONKI3 | Medical Subject Headings

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Fructose-1,6-Diphosphatase Deficiency

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Fructose Metabolism, Inborn Errors ∟ Fructose-1,6-Diphosphatase Deficiency 1 coordinate concept ∟ Fructose Intolerance Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Fructose Metabolism, Inborn Errors ∟ Fructose-1,6-Diphosphatase Deficiency 1 coordinate concept ∟ Fructose Intolerance X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Fructose Metabolism, Inborn Errors ∟ Fructose-1,6-Diphosphatase Deficiency Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Fructose Metabolism, Inborn Errors ∟ Fructose-1,6-Diphosphatase Deficiency Fructose Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Fructose Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Annotation:	an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FDP DEFIC X
History note:	Hexosediphosphatase/deficiency (1970-1988)X
historyNote*:	91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 X
publicMeSHNote*:	91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 X
Scope note:	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. X
activeMeSHYear*:	2007X
dateCreated*:	1988-05-31X
dateEstablished*:	1991-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	EJBX
Type:	Concept X
Coordinate terms:	Fructose Intolerance X
URI:	X
Labels and equivalent concepts:	Fruktoosi 1,6-difosfataasin puutos (fi) Fruktoosi 1,6-difosfataasin puute (fi, replaced) Fruktoosi 1,6-difosfataasipuute (fi, replaced) Fruktoosi 1,6-difosfataasipuutos (fi, replaced) Fruktos-1,6-difosfatasbrist (sv) Hexosediphosphatase Deficiency (en, replaced) Fructosediphosphatase Deficiency (en, replaced) Fructose-1,6-Bisphosphatase Deficiency (en, replaced) Fructose-Biphosphatase Deficiency (en, replaced) Fructose 1,6 Diphosphatase Deficiency (en, replaced) X
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