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phenylketonuria

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Phenylketonuria: MedlinePlus Genetics
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood . Phenylalanine is a protein building block (an amino acid ) that is obtained from eating certain foods (such as meat, eggs, nuts, and milk) and in some artificial sweeteners. medlineplus.gov
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Phenylketonuria (PKU) - Symptoms and causes - Mayo Clinic
PKU is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. www.mayoclinic.org
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Phenylketonuria - Wikipedia
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to ... en.wikipedia.org
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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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Phenylketonuria - NHS
Find out about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine. www.nhs.uk
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Phenylketonuria (PKU) Symptoms, Causes & Treatment
Phenylketonuria (PKU) is a rare genetic disease that causes an amino acid called phenylalanine to build up in your baby's brain, causing toxic effects. my.clevelandclinic.org
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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 - StatPearls - NCBI Bookshelf
Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH). www.ncbi.nlm.nih.gov
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About PKU | NPKUA
People with PKU are unable to process the amino acid, phenylalanine (Phe). Phe is a building block of protein, found in all proteins, most foods, and ... www.npkua.org
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Phenylketonuria - Symptoms, Causes, Treatment | NORD
Phenylketonuria (PKU) is an inborn error of metabolism that can be diagnosed during the first days of life with routine newborn screening. rarediseases.org
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Entry - #261600 - PHENYLKETONURIA; PKU - OMIM - (OMIM.ORG)
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), ... omim.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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