Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Alkaptonuria> ?p ?o }
- Alkaptonuria abstract "Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits abnormal copies from each parent (it is a recessive condition) the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidated form alkapton are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over thirty years old, although the dark discoloration of the urine is present from birth.Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), vitamin C has been used to reduce the ochronosis and lowering of the homogentisic acid levels may be attempted with a low-protein diet. Recently the drug nitisinone has been found to suppresses homogentisic acid production, and research is ongoing as to whether it can improve symptoms. Alkaptonuria is a rare disease; it occurs in one in 250,000 people, but is more common in Slovakia and the Dominican Republic.".
- Alkaptonuria icd10 "E70.2(ILDSE70.210)".
- Alkaptonuria icd9 "270.2".
- Alkaptonuria meshId "D000474".
- Alkaptonuria omim "203500".
- Alkaptonuria thumbnail OCHRONOSIS.jpg?width=300.
- Alkaptonuria wikiPageExternalLink www.akusociety.org.
- Alkaptonuria wikiPageExternalLink www.developakure.eu.
- Alkaptonuria wikiPageExternalLink watch?v=nuVn7QGkv-I.
- Alkaptonuria wikiPageID "148249".
- Alkaptonuria wikiPageLength "15536".
- Alkaptonuria wikiPageOutDegree "83".
- Alkaptonuria wikiPageRevisionID "705670589".
- Alkaptonuria wikiPageWikiLink 4-Hydroxyphenylpyruvate_dioxygenase.
- Alkaptonuria wikiPageWikiLink 4-Maleylacetoacetic_acid.
- Alkaptonuria wikiPageWikiLink Acetoacetic_acid.
- Alkaptonuria wikiPageWikiLink Amino_acid.
- Alkaptonuria wikiPageWikiLink Analgesic.
- Alkaptonuria wikiPageWikiLink Aortic_valve.
- Alkaptonuria wikiPageWikiLink Archibald_Garrod.
- Alkaptonuria wikiPageWikiLink Aromatic_amino_acids.
- Alkaptonuria wikiPageWikiLink Arthroplasty.
- Alkaptonuria wikiPageWikiLink Ascorbic_acid.
- Alkaptonuria wikiPageWikiLink Asymptomatic.
- Alkaptonuria wikiPageWikiLink Bone_density.
- Alkaptonuria wikiPageWikiLink Bone_fracture.
- Alkaptonuria wikiPageWikiLink Cardiac_arrhythmia.
- Alkaptonuria wikiPageWikiLink Cartilage.
- Alkaptonuria wikiPageWikiLink Category:Amino_acid_metabolism_disorders.
- Alkaptonuria wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Alkaptonuria wikiPageWikiLink Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Alkaptonuria wikiPageWikiLink Chromatography.
- Alkaptonuria wikiPageWikiLink Collagen.
- Alkaptonuria wikiPageWikiLink Cornea.
- Alkaptonuria wikiPageWikiLink Corneal_limbus.
- Alkaptonuria wikiPageWikiLink Croonian_Lecture.
- Alkaptonuria wikiPageWikiLink Dominance_(genetics).
- Alkaptonuria wikiPageWikiLink Dominican_Republic.
- Alkaptonuria wikiPageWikiLink Enzyme.
- Alkaptonuria wikiPageWikiLink Exon.
- Alkaptonuria wikiPageWikiLink Ferrous.
- Alkaptonuria wikiPageWikiLink Gallstone.
- Alkaptonuria wikiPageWikiLink Gene.
- Alkaptonuria wikiPageWikiLink Heart_failure.
- Alkaptonuria wikiPageWikiLink Heart_valve.
- Alkaptonuria wikiPageWikiLink Homogentisate_1,2-dioxygenase.
- Alkaptonuria wikiPageWikiLink Homogentisic_acid.
- Alkaptonuria wikiPageWikiLink Hormone.
- Alkaptonuria wikiPageWikiLink Joint_replacement.
- Alkaptonuria wikiPageWikiLink Kidney_stone.
- Alkaptonuria wikiPageWikiLink List_of_cutaneous_conditions.
- Alkaptonuria wikiPageWikiLink List_of_radiographic_findings_associated_with_cutaneous_conditions.
- Alkaptonuria wikiPageWikiLink Low-protein_diet.
- Alkaptonuria wikiPageWikiLink Malic_acid.
- Alkaptonuria wikiPageWikiLink Melanin.
- Alkaptonuria wikiPageWikiLink Mitral_valve.
- Alkaptonuria wikiPageWikiLink Mummy.
- Alkaptonuria wikiPageWikiLink Mutation.
- Alkaptonuria wikiPageWikiLink Nitisinone.
- Alkaptonuria wikiPageWikiLink Ochre.
- Alkaptonuria wikiPageWikiLink Ochronosis.
- Alkaptonuria wikiPageWikiLink Osteoarthritis.
- Alkaptonuria wikiPageWikiLink Oxide.
- Alkaptonuria wikiPageWikiLink Phenylalanine.
- Alkaptonuria wikiPageWikiLink Polymer.
- Alkaptonuria wikiPageWikiLink Prostate.
- Alkaptonuria wikiPageWikiLink Rare_disease.
- Alkaptonuria wikiPageWikiLink Royal_College_of_Physicians.
- Alkaptonuria wikiPageWikiLink Royal_Institution.
- Alkaptonuria wikiPageWikiLink Salivary_gland.
- Alkaptonuria wikiPageWikiLink Sclera.
- Alkaptonuria wikiPageWikiLink Sialolithiasis.
- Alkaptonuria wikiPageWikiLink Slovakia.
- Alkaptonuria wikiPageWikiLink The_International_League_of_Dermatological_Societies.
- Alkaptonuria wikiPageWikiLink Thyroid_hormone.
- Alkaptonuria wikiPageWikiLink Type_I_tyrosinemia.
- Alkaptonuria wikiPageWikiLink Tyrosine.
- Alkaptonuria wikiPageWikiLink Valve_replacement.
- Alkaptonuria wikiPageWikiLink Valvular_heart_disease.
- Alkaptonuria wikiPageWikiLink Vitamin_C.
- Alkaptonuria wikiPageWikiLink File:Alkaptonuria.jpg.
- Alkaptonuria wikiPageWikiLink File:Homogentisic_acid.svg.
- Alkaptonuria wikiPageWikiLink File:Ochronosis,_Intervertebral_discs_Calcification._ZB.jpg.
- Alkaptonuria wikiPageWikiLink File:Pathophysiology_of_metabolic_disorders_of_phenylalanine_and_tyrosine.png.
- Alkaptonuria wikiPageWikiLinkText "Alkaptonuria".
- Alkaptonuria wikiPageWikiLinkText "alkaptonuria".
- Alkaptonuria wikiPageWikiLinkText "alkaptonurics".
- Alkaptonuria caption "Pigmentation of the face in alkaptonuria".
- Alkaptonuria diseasesdb "409".
- Alkaptonuria emedicinesubj "ped".
- Alkaptonuria emedicinetopic "64".
- Alkaptonuria genereviewsname "Alkaptonuria".
- Alkaptonuria genereviewsnbk "NBK1454".
- Alkaptonuria icd "270.2".
- Alkaptonuria icd "E70.2".
- Alkaptonuria medlineplus "1200".
- Alkaptonuria meshid "D000474".
- Alkaptonuria name "Alkaptonuria".
- Alkaptonuria omim "203500".
- Alkaptonuria width "180".