翻訳と辞書 Words near each other ・ Hereditary angioedema ・ Hereditary benign intraepithelial dyskeratosis ・ Hereditary breast–ovarian cancer syndrome ・ Hereditary C*-subalgebra ・ Hereditary CNS demyelinating disease ・ Hereditary Commander ・ Hereditary coproporphyria ・ Hereditary cystatin C amyloid angiopathy ・ Hereditary diffuse gastric cancer ・ Hereditary diffuse leukoencephalopathy with spheroids ・ Hereditary Disease Foundation ・ Hereditary education policy ・ Hereditary elliptocytosis ・ Hereditary equine regional dermal asthenia ・ Hereditary folate malabsorption ・ Hereditary fructose intolerance ・ Hereditary gelsolin amyloidosis ・ Hereditary gingival fibromatosis ・ Hereditary Health Court ・ Hereditary hemorrhagic telangiectasia ・ Hereditary hyperbilirubinemia ・ Hereditary inclusion body myopathy ・ Hereditary intestinal polyposis ・ Hereditary Kingdom of Norway ・ Hereditary leiomyomatosis and renal cell cancer syndrome ・ Hereditary leiomyomatosis and renal cell carcinoma ・ Hereditary monarchy ・ Hereditary motor and sensory neuropathy ・ Hereditary motor and sensory neuropathy with proximal dominance ・ Hereditary mucoepithelial dysplasia Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Hereditary fructose intolerance ： ウィキペディア英語版 Hereditary fructose intolerance Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol. If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate. This accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate (ATP). Symptoms of HFI include vomiting, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and potentially kidney failure. While HFI is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of HFI. Death in HFI is always associated with problems in diagnosis. HFI is an autosomal recessive condition caused by mutations in the ''ALDOB'' gene, located at 9q22.3. HFI is typically suspected based on dietary history, especially in infants who become symptomatic after breast feeding. This suspicion is typically confirmed by molecular analysis. Treatment of HFI involves strict avoidance of fructose in the diet. Older patients with HFI typically self-select a diet low in fructose, even before being diagnosed. == Characteristics == The key identifying feature of HFI is the appearance of symptoms with the introduction of fructose to the diet. Affected individuals are asymptomatic and healthy, provided they do not ingest foods containing fructose or any of its common precursors, sucrose and sorbitol. In the past, infants often became symptomatic when they were introduced to formulas that were sweetened with fructose or sucrose. These sweeteners are not common in formulas used today.〔 Symptoms such as vomiting, nausea, restlessness, pallor, sweating, trembling and lethargy can also first present in infants when they are introduced to fruits and vegetables. These can progress to apathy, coma and convulsions if the source is not recognized early.〔 When patients are diagnosed with HFI, a dietary history will often reveal an aversion to fruit and other foods that contain large amounts of fructose. Most adult patients do not have any dental caries.〔〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hereditary fructose intolerance」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.