Maksud "phenylketonuria" dalam kamus Corsica

ETIMOLOGI PERKATAAN PHENYLKETONURIA

New Latin.

Etimologi adalah kajian asal perkataan dan perubahan struktur dan makna mereka.

SEBUTAN PHENYLKETONURIA DALAM CORSICA

phenylketonuria  [ˌfiːnaɪlˌkiːtəˈnjʊərɪə]

APAKAH MAKSUD PHENYLKETONURIA dalam CORSICA?

Phenylketonuria

Phenylketonuria

Phenylketonuria adalah gangguan genetik metabolik resesif autosomal yang dicirikan oleh mutasi homozygous atau sebatian heterozygous dalam gen untuk enzim heksatik phenylalanine hydroxylase, menjadikannya tidak berfungsi. Bantuan enzim ini metabolisme fenilalanin asid amino kepada tyrosine asid amino. Apabila aktiviti PAH dikurangkan, fenilalanin berkumpul dan ditukar menjadi phenylpyruvate, yang dapat dikesan dalam air kencing. PKU yang tidak dirawat boleh mengakibatkan ketidakupayaan intelektual, sawan, dan masalah perubatan yang serius. Rawatan arus perdana untuk pesakit PKU klasik adalah diet PHE yang terhad yang dibekalkan oleh formula perubatan yang mengandungi asid amino dan nutrien lain. Di Amerika Syarikat, cadangan semasa ialah diet PKU perlu dikekalkan untuk kehidupan. Pesakit yang didiagnosis lebih awal dan mengekalkan diet yang ketat boleh menjalani jangka hayat yang normal dengan perkembangan mental yang normal. Walau bagaimanapun, penyelidikan baru-baru ini menunjukkan bahawa neurocognitive, psikososial, kualiti hidup, pertumbuhan, pemakanan, patologi tulang sedikit suboptimal jika diet tidak ditambah dengan asid amino.

Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by homozygous or compound heterozygous mutations in the gene for the hepatic enzyme phenylalanine hydroxylase, rendering it nonfunctional.:541 This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate, which can be detected in the urine. Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. The mainstream treatment for classic PKU patients is a strict PHE-restricted diet supplemented by a medical formula containing amino acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life. Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. However, recent research suggests that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology are slightly suboptimal if diet is not supplemented with amino acids.

Definisi phenylketonuria dalam kamus Corsica

Definisi fenilketonuria dalam kamus adalah gangguan metabolik kongenital yang dicirikan oleh pengumpulan fenilalanin abnormal dalam cecair badan, mengakibatkan pelbagai tahap kekurangan mental.

TERJEMAHAN PHENYLKETONURIA

Cari terjemahan phenylketonuria kepada 25 bahasa dengan penterjemah Corsica pelbagai bahasa kami.

Terjemahan phenylketonuria dari Corsica ke bahasa lain yang dibentangkan dalam bahagian ini telah diperolehi menerusi terjemahan statistik automatik; di mana unit terjemahan penting adalah perkataan «phenylketonuria» dalam Corsica.

• Penterjemah Corsica - Cina: 苯丙酮尿症
• Penterjemah Corsica - Czech: fenilcetonuria
• Corsica: phenylketonuria
• Penterjemah Corsica - Hindi: phenylketonuria
• Penterjemah Corsica - Amhara: بيلة الفينيل كيتون
• Penterjemah Corsica - Rusia: фенилкетонурия
• Penterjemah Corsica - Punjabi: fenilcetonúria
• Penterjemah Corsica - Basque: ফিনাইলকিটোনিউরিয়াল
• Penterjemah Corsica - Frisia: phénylcétonurie
• Penterjemah Corsica - Melayu: Phenylketonuria
• Penterjemah Corsica - Chichewa: Phenylketonurie
• Penterjemah Corsica - Jepun: フェニールケトン尿
• Penterjemah Corsica - Kreol Haiti: 페닐 케톤뇨증
• Penterjemah Corsica - Jerman: Phenylketonuria
• Penterjemah Corsica - Vietnam: phenylketonuria
• Penterjemah Corsica - Tagalog: ஃபீனைல்கீட்டோனுரியா
• Penterjemah Corsica - Marathi: Phenylketonuria
• Penterjemah Corsica - Turki: fenilketonüri
• Penterjemah Corsica - Itali: fenilchetonuria
• Penterjemah Corsica - Poland: fenyloketonuria
• Penterjemah Corsica - Ukraine: фенілкетонурія
• Penterjemah Corsica - Romania: fenilcetonurie
• Penterjemah Corsica - Cina: φαινυλκετονουρία
• Penterjemah Corsica - Afrikaans: fenielketonurie
• Penterjemah Corsica - Swahili: fenylketonuri
• Penterjemah Corsica - Parsi: fenylketonuri

CORSICA BUKU YANG BERKAIT DENGAN «PHENYLKETONURIA»

Ketahui penggunaan phenylketonuria dalam pilihan bibliografi berikut. Buku yang berkait dengan phenylketonuria dan ekstrak ringkas dari yang sama untuk menyediakan konteks penggunaannya dalam kesusasteraan Corsica.

Low Protein Cookery for Phenylketonuria

The nutrient calculations in this edition of the cookbook are based on the updated 1995 Low Protein Food List for PKU compiled by the author, which is the most widely used food list for the PKU diet in the United States.

Virginia E. Schuett, 1997

Carbohydrate and Glycoprotein Metabolism; Maternal ...

394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC.

R. Angus Harkness, R.J. Pollitt, G.M. Addison, 1991

Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes ...

These patients may have only moderately elevated levels of phenylala- nine, not high enough to warrant treatment. Approximately 1 % to 2% of patients with phenylketonuria do not have a defect in phenylalanine hydroxylase, but instead have ...

Victor C. Baum, Jennifer E. O'Flaherty, 2007

Encyclopedia of Family Health

Phenylketonuria Questions and Answers I am pregnant and worried about my baby. Is phenylketonuria a common problem? Phenylketonuria is a rare disease, affecting about one in every 15,000 babies born in the United States. It is detected ...

David B. Jacoby, R. M. Youngson, 2004

Molecular Biology and Biotechnology: A Comprehensive Desk ...

Phenylketonuria (PKU) An inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). Phenylketonuria (PKU), one of the most common inborn errors of ami im acid metabolism, is an autosomal recessive genetic ...

Robert A. Meyers, 1995

Merritt's Neurology

Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev Med Child Neurol. 2004;46(4):230–238 . Baumeister AA, Baumeister AA. Dietary treatment of destructive behavior ...

Lewis P. Rowland, Timothy A. Pedley, 2010

Inborn Metabolic Diseases: Diagnosis and Treatment

Mol Genet Metab 81:3-8 Sarkissian CN, Shao Z, Blain F et al (1999) A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A 96:2339- 2344 Liu ...

John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2006

Pediatric Nutrition in Chronic Diseases and Developmental ...

Chapter. 39. Phenylketonuria. and. Maternal. Phenylketonuria. Melanie. Hunt,. Susan. Berry,. Helen. Berry,. and. Nancy. Leslie. I remember when she was only 3 months old she lay in her basket on the sun deck of a ship. I had taken her there ...

Shirley Ekvall, Valli K. Ekvall, 2005

Clinical Biochemistry: An Illustrated Colour Text

N-aspartylphenylalanine methyl ester (aspartame) is a commonly used artificial sweetener. It is broken down in the gut to phenylalanine. Patients with phenylketonuria must avoid any food containing this additive. It is particularly important that ...

‎2008

Genetic Screening: Programs, Principles, and Research

RETARDATION. AND. PHENYLKETONURIA. An Apparent Association The association of phenylketonuria with mental retardation was discovered by Foiling in 1934.1 Shortly thereafter, Jervis surveyed 20,300 institutionalized retardates in the ...

‎1975

BARANGAN BERITA YANG TERMASUK TERMA «PHENYLKETONURIA»

Ketahui apa yang diterbitkan oleh akhbar nasional dan antarabangsa dan cara istilah phenylketonuria digunakan dalam konteks perkara berita berikut.

Company Shares of BioMarin Pharmaceutical Inc. Drops by -2.75%

... Morquio Syndrome Type A (MPS IV A), PEG-PAL, an enzyme substitution therapy for the treatment of phenylketonuria (PKU), and BMN-701, ... «Insider Trading Report, Jul 15»

Friday's Trade Stocks Roundup: MGIC Investment (NYSE:MTG …

... proprietary synthetic oral form of 6R-BH4 used to treat patients with phenylketonuria (PKU), an inherited metabolic disease; Aldurazyme used ... «wsnewspublishers, Jul 15»

Pre-Market News Alert on: BioMarin Pharmaceutical (NASDAQ …

... proprietary synthetic oral form of 6R-BH4 used to treat patients with phenylketonuria (PKU), an inherited metabolic disease; Aldurazyme used ... «wsnewspublishers, Jul 15»

Explore phenylketonuria global clinical trials review for 2014

Clinical trial report, “Phenylketonuria (PKU) Global Clinical Trials Review, H1, 2014″ provides data on the Phenylketonuria (PKU) clinical trial ... «WhaTech, Jul 15»

Biomarin Pharmaceutical Inc (BMRN) Files Form 4 Insider Selling …

... Morquio Syndrome Type A (MPS IV A), PEG-PAL, an enzyme substitution therapy for the treatment of phenylketonuria (PKU), and BMN-701, ... «Insider Trading Report, Jul 15»

BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) Stock Rating Update

... Morquio Syndrome Type A (MPS IV A), PEG-PAL, an enzyme substitution therapy for the treatment of phenylketonuria (PKU), and BMN-701, ... «Investor Newswire, Jul 15»

European Stocks Seen Flat To Higher

... European marketing authorization for its product Kuvan (sapropterin dihydrochloride) to allow its use in children with phenylketonuria below ... «London South East, Jul 15»

Merck Marks 30-Year Milestone in Commitment to Innovation and …

ISENTRESS chewable tablets contain phenylalanine, a component of aspartame, which may be harmful to patients with phenylketonuria. «PharmiWeb.com, Jul 15»

Large Inflow of Money Witnessed in BioMarin Pharmaceutical Inc.

... Morquio Syndrome Type A (MPS IV A), PEG-PAL, an enzyme substitution therapy for the treatment of phenylketonuria (PKU), and BMN-701, ... «OTC Outlook, Jul 15»

Active Stocks in the Spotlight: HMS Holdings Corp (NASDAQ:HMSY …

... proprietary synthetic oral form of 6R-BH4 used to treat patients with phenylketonuria (PKU), an inherited metabolic disease; Aldurazyme used ... «wsnewspublishers, Jul 15»