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phenylketonuria

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phenylketonuria
phenylketonuria Path. (ˌfɛnɪl-, ˌfiːnaɪlkiːtəʊˈnjʊərɪə) [f. phenyl + ketonuria.] An inherited inability to metabolize phenylalanine normally, which if untreated in children leads to mental deficiency.1935 Lancet 27 July 192/2 Phenylpyruvic amentia, more conveniently termed phenylketonuria. Ibid. 193... Oxford English Dictionary
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European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria
The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is a Europe-based non-profit organization. This paper subsequently lead to the first European Guidelines for Phenylketonuria. wikipedia.org
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Phenylketonuria (PKU) - Mother To Baby | Fact Sheets - NCBI Bookshelf
Breastfeeding while I have PKU: A person with PKU can breastfeed. PKU is not transmitted in breastmilk. If a baby does not have PKU, the available data suggests that the baby's body is able to breakdown the Phe in breast milk. It is important to remain on a special diet while breastfeeding the baby to minimize exposure to high levels of Phe.
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Is this a simple Hardy-Weinberg problem? Phenylketonuria is a severe developmental disability due to a rare autosomal recessive allele. Approximately 1 in every 10,000 newborns suffer from this disease. Calculate the ...
Yes, your answers are correct. Of course, your calculations forced you to make the standard Hardy-Weinberg assumptions such as random mating. Good job!
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Sepiapterin
Deficiency of tetrahydrobiopterin can cause toxic buildup of phenylalanine (phenylketonuria) as well as deficiencies of dopamine, norepinephrine, and epinephrine See also Dihydrobiopterin Tetrahydrobiopterin Dystonia Phenylketonuria Salvage pathway References Pteridines Secondary alcohols Ketones Lactams wikipedia.org
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PAH gene mutation Analysis of the DNA of the Phenylalanine hydroxylase (PAH) gene in a patient with phenylketonuria revealed a mutation in the protein coding region whose predicted effect would be to replace the amino...
In terms of the way that the question is worded, I imagine the most likely answer would be that the amino acid substitution D > H disrupts the folding of the protein so that it is recognised as being aberrant and is rapidly degraded.
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Phenylpyruvic acid
phenylalanine hydroxylase is reduced, the amino acid phenylalanine accumulates and gets converted into phenylpyruvic acid (phenylpyruvate), which leads to 'Phenylketonuria See also Phenylpyruvate decarboxylase Phenylpyruvate tautomerase Phenylketonuria References Alpha-keto acids Benzyl compounds wikipedia.org
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Phenylalanine racemase (ATP-hydrolysing)
to disease Problems in the digestion of phenylalanine (phe) to tyrosine (tyr) lead to the buildup of both phe and phenylpyruvate, in a disease called Phenylketonuria For more information see the Phenylketonuria page or the link below. wikipedia.org
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Pegvaliase
Pegvaliase, sold under the brand name Palynziq, is a medication for the treatment of the genetic disease phenylketonuria. wikipedia.org
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Partial hydatidiform mole in a phenylketonuria patient treated with ...
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.
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3,4-Dihydroxystyrene
is likely that DHS and other PH inhibitors will never have clinical applications on account of their capacity for inducing hyperphenylalaninemia and phenylketonuria wikipedia.org
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苯丙酮尿症（Pku） - 症状与病因 - 妙佑医疗国际
Dec 28, 2022苯丙酮尿症又称 PKU，是一种罕见的遗传性疾病，会导致一种叫做苯丙氨酸的氨基酸在体内蓄积。. PKU 是由苯丙氨酸羟化酶（PAH）基因发生改变所致。. 该基因可以帮助生成一种分解苯丙氨酸所需的酶。. 由于没有分解苯丙氨酸所需的酶，当 PKU 患者食用含蛋白质的 ...
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苯丙酮尿症(PKU)试验 - kjentmann.com
参考文献 引用. 杨晓明，王晓明(2013)。实验室测试和诊断程序圣路易斯:桑德斯出版社，第6版。 其他谘询工程. 遗传学委员会 ...
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PKU
北干巴鲁苏丹谢里夫·卡西姆二世国际机场的IATA机场代码 苯丙酮尿症（Phenylketonuria）的缩写，一种遗传病，其症状是尿中出现超出常规水平的苯丙酮酸。 wikipedia.org
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Evelyn Hickmans
Evelyn Marion Hickmans (9 April 1882 - 16 January 1972) was a pioneer in developing a treatment for phenylketonuria together with Horst Bickel and John In 1962, she and her team were awarded the John Scott Medal for their invention of a method for controlling phenylketonuria. wikipedia.org
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