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• Phenylketonuria abstract "Phenylketonuria (PKU) (phenyl + ketone + -uria; /ˌfiːnaɪlˌkiːtəˈnjʊəriə, ˌfɛ-, -nɪl-, -nəl-, -toʊ-/) is an inborn error of metabolism involving impaired metabolism of the amino acid phenylalanine. Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity. The condition is also known as phenylalanine hydroxylase deficiency.Protein-rich foods or the sweetener aspartame can act as poisons for people with phenylketonuria. The role of PAH is to break down excess phenylalanine from food. Phenylalanine is a necessary part of the human diet and is naturally present in all kinds of dietary protein. It is also used to make aspartame, known by the trade name Nutrasweet, which is used to sweeten low-calorie and sugar free soft drinks, yogurts, and desserts. In people without PKU, the PAH enzyme breaks down any excess phenylalanine from these sources beyond what is needed by the body. However, if there is not enough of the PAH enzyme or its cofactor, then phenylalanine can build up in the blood and brain to toxic levels, affecting brain development and function. PKU is rare, but important to identify, because if caught early it is very treatable. It is not contagious, and it is lifelong, but with early diagnosis and consistent treatment, the damaging effects can be minimal or non-existent.Untreated PKU can lead to intellectual disability, seizures, and other serious medical problems. The best proven treatment for classical PKU patients is a strict phenylalanine-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.PKU is an inherited disease. When an infant is diagnosed with PKU, it is never the result of any action of the parents or any environmental factor. Rather, for a child to inherit PKU, both of his or her parents must have at least one mutated allele of the PAH gene. Most parents who are carriers of PKU genes are not aware that they have this mutation because being a carrier causes no medical problems. To be affected by PKU, a child must inherit two mutated alleles, one from each parent.".
• Phenylketonuria icd10 "E70.0".
• Phenylketonuria icd9 "270.1".
• Phenylketonuria meshId "D010661".
• Phenylketonuria omim "261600".
• Phenylketonuria thumbnail L-Phenylalanin_-_L-Phenylalanine.svg?width=300.
• Phenylketonuria wikiPageExternalLink Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf.
• Phenylketonuria wikiPageExternalLink www.canpku.org.
• Phenylketonuria wikiPageExternalLink www.lowproteinliving.co.uk.
• Phenylketonuria wikiPageExternalLink br.fcgi?book=gene&part=pku.
• Phenylketonuria wikiPageExternalLink www.npkua.org.
• Phenylketonuria wikiPageExternalLink www.nspku.org.
• Phenylketonuria wikiPageExternalLink www.pahdb.mcgill.ca.
• Phenylketonuria wikiPageExternalLink www.pku.com.
• Phenylketonuria wikiPageExternalLink www.pkunews.org.
• Phenylketonuria wikiPageID "23251".
• Phenylketonuria wikiPageLength "47381".
• Phenylketonuria wikiPageOutDegree "159".
• Phenylketonuria wikiPageRevisionID "708168995".
• Phenylketonuria wikiPageWikiLink Allele.
• Phenylketonuria wikiPageWikiLink Amino_acid.
• Phenylketonuria wikiPageWikiLink Amyloid.
• Phenylketonuria wikiPageWikiLink Aspartame.
• Phenylketonuria wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
• Phenylketonuria wikiPageWikiLink Australia.
• Phenylketonuria wikiPageWikiLink Benzaldehyde.
• Phenylketonuria wikiPageWikiLink Benzene.
• Phenylketonuria wikiPageWikiLink Benzoic_acid.
• Phenylketonuria wikiPageWikiLink BioMarin_Pharmaceutical.
• Phenylketonuria wikiPageWikiLink Biopterin.
• Phenylketonuria wikiPageWikiLink Blood.
• Phenylketonuria wikiPageWikiLink Blood–brain_barrier.
• Phenylketonuria wikiPageWikiLink Bread.
• Phenylketonuria wikiPageWikiLink CD98.
• Phenylketonuria wikiPageWikiLink Canada.
• Phenylketonuria wikiPageWikiLink Catabolism.
• Phenylketonuria wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
• Phenylketonuria wikiPageWikiLink Category:Autosomal_recessive_disorders.
• Phenylketonuria wikiPageWikiLink Category:Biology_of_attention_deficit_hyperactivity_disorder.
• Phenylketonuria wikiPageWikiLink Category:Disorders_causing_seizures.
• Phenylketonuria wikiPageWikiLink Category:Intellectual_disability.
• Phenylketonuria wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
• Phenylketonuria wikiPageWikiLink Chicken_(food).
• Phenylketonuria wikiPageWikiLink China.
• Phenylketonuria wikiPageWikiLink Chromosome_12_(human).
• Phenylketonuria wikiPageWikiLink Cofactor_(biochemistry).
• Phenylketonuria wikiPageWikiLink Compound_heterozygosity.
• Phenylketonuria wikiPageWikiLink Cottage_cheese.
• Phenylketonuria wikiPageWikiLink Crayfish.
• Phenylketonuria wikiPageWikiLink Czechoslovakia.
• Phenylketonuria wikiPageWikiLink Denmark.
• Phenylketonuria wikiPageWikiLink Dermatitis.
• Phenylketonuria wikiPageWikiLink Dihydrobiopterin_reductase.
• Phenylketonuria wikiPageWikiLink Dominance_(genetics).
• Phenylketonuria wikiPageWikiLink Dopamine.
• Phenylketonuria wikiPageWikiLink Eggwhites.
• Phenylketonuria wikiPageWikiLink Electroencephalography.
• Phenylketonuria wikiPageWikiLink Elk_meat.
• Phenylketonuria wikiPageWikiLink Enzyme.
• Phenylketonuria wikiPageWikiLink Epileptic_seizure.
• Phenylketonuria wikiPageWikiLink File:Autorecessive.svg.
• Phenylketonuria wikiPageWikiLink Finland.
• Phenylketonuria wikiPageWikiLink Fish_as_food.
• Phenylketonuria wikiPageWikiLink Fitness_(biology).
• Phenylketonuria wikiPageWikiLink Flowers_for_Algernon.
• Phenylketonuria wikiPageWikiLink France.
• Phenylketonuria wikiPageWikiLink Gene_therapy.
• Phenylketonuria wikiPageWikiLink Genetic_disorder.
• Phenylketonuria wikiPageWikiLink Genetic_heterogeneity.
• Phenylketonuria wikiPageWikiLink Glutamic_acid.
• Phenylketonuria wikiPageWikiLink Heredity.
• Phenylketonuria wikiPageWikiLink Heterozygote_advantage.
• Phenylketonuria wikiPageWikiLink Histidine.
• Phenylketonuria wikiPageWikiLink Human_brain.
• Phenylketonuria wikiPageWikiLink Hyperphenylalaninemia.
• Phenylketonuria wikiPageWikiLink Hypopigmentation.
• Phenylketonuria wikiPageWikiLink Inborn_error_of_metabolism.
• Phenylketonuria wikiPageWikiLink India.
• Phenylketonuria wikiPageWikiLink Intellectual_disability.
• Phenylketonuria wikiPageWikiLink Ireland.
• Phenylketonuria wikiPageWikiLink Isoleucine.
• Phenylketonuria wikiPageWikiLink Italy.
• Phenylketonuria wikiPageWikiLink Ivar_Asbjørn_Følling.
• Phenylketonuria wikiPageWikiLink Japan.
• Phenylketonuria wikiPageWikiLink Ketone.
• Phenylketonuria wikiPageWikiLink Korea.
• Phenylketonuria wikiPageWikiLink L-DOPA.
• Phenylketonuria wikiPageWikiLink Learning_disability.
• Phenylketonuria wikiPageWikiLink Legume.
• Phenylketonuria wikiPageWikiLink Leucine.
• Phenylketonuria wikiPageWikiLink Lobster.
• Phenylketonuria wikiPageWikiLink Lofenalac.
• Phenylketonuria wikiPageWikiLink Macaque.
• Phenylketonuria wikiPageWikiLink Magnetic_resonance_imaging.
• Phenylketonuria wikiPageWikiLink Maize.
• Phenylketonuria wikiPageWikiLink Medical_genetics.
• Phenylketonuria wikiPageWikiLink Melting_point.
• Phenylketonuria wikiPageWikiLink Methionine.
• Phenylketonuria wikiPageWikiLink Microcephaly.
• Phenylketonuria wikiPageWikiLink Molar_concentration.

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