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Topic: Alkaptonuria

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	Alkaptonuria - Wikipedia, the free encyclopedia
		Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited genetic disorder of tyrosine metabolism.
		This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.5).
		A distinctive characteristic of alkaptonuria is that urine exposed to air turns dark (or fl) after several hours because of the homogentisic acid.
	en.wikipedia.org /wiki/Alkaptonuria (217 words)

	MedForumsLive.comAlkaptonuria (Ochronosis) (Site not responding. Last check: 2007-10-12)
		Alkaptonuria is known to be especially frequent in Slovakia and in the Dominican Republic.
		Alkaptonuria leads to premature progressive degeneration of the cartilage of the joints due to the accumulation of homogentisic acid in the cartilage.
		Alkaptonuria enjoys the historic distinction of being one of the conditions for which recessive inheritance was first proposed.
	www.medforumslive.com /terms/alkaptonuria.html (747 words)

	Alkaptonuria definition - Medical Dictionary definitions of popular medical terms
		The diagnosis of alkaptonuria is based upon the detection of excess HGA in the urine by gas chromatography and mass spectrometry analysis.
		Alkaptonuria is inherited in an autosomal recessive manner.
		Alkaptonuria enjoys the historic distinction of being one of the conditions for which autosomal recessive inheritance was first proposed.
	www.medterms.com /script/main/art.asp?articlekey=39942 (550 words)

	ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE
		Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis.
		Alkaptonuria, or the excretion of urine which darkens on exposure to air, is an autosomal recessive disorder due to deficiency of homogentisic acid oxidase, an important enzyme in the catabolism of aromatic amino acids.
		Genetically, alkaptonuria is inherited as an autosomal recessive trait.
	www.kfshrc.edu.sa /annals/185/98-055.html (1524 words)

	ALKAPTONURIA: Contact a Family - for families with disabled children: information on rare syndromes and disorders
		Alkaptonuria is found in all populations, however, it is especially frequent in individuals of Czech or Dominican descent.
		Alkaptonuria is caused by the deficiency of an enzyme known as homogentisic acid oxidase (HGAO).
		Alkaptonuria is inherited as an autosomal recessive trait.
	www.cafamily.org.uk /Direct/a32.html (823 words)

	Journal of Bone and Joint Surgery: Spontaneous tendon ruptures in alkaptonuria (Site not responding. Last check: 2007-10-12)
		Alkaptonuria is a rare autosomal recessive metabolic disorder due to deficiency of the enzyme homogentisic acid oxidase which is involved in the metabolism of homogentisic acid, a metabolic product of the aromatic amino acids phenylalanine and tyrosine.1 The homogentisic acid which accumulates is polymerised to form a dark pigment which is deposited in connective tissues.
		The musculoskeletal manifestation of alkaptonuria is called Ochronosis', a term which was coined by Virchow because of the ochre or yellow appearance of the cartilage under the microscope.
		Alkaptonuria (urine which darkens on exposure to air) is a rare hereditary metabolic disorder with an incidence of 1 : 1 000 000 individuals.
	www.findarticles.com /p/articles/mi_qa3767/is_200308/ai_n9239086 (1378 words)

	genome.gov \| ONLINE Education Kit - 1902
		Archibald Garrod observes that the disease alkaptonuria is inherited according to Mendelian rules.
		In 1990, a French group led by J.L. Guenet identified mice with the equivalent of alkaptonuria; flened wood shavings in the mouse boxes, caused by the mice’s darkened urine, brought the mice to the scientists’ attention.
		A variety of mutations in the HGO gene can cause alkaptonuria; most of the mutations leading to disease change parts of the gene that normally are conserved between the human gene and the equivalent gene in other species.
	www.genome.gov /Pages/Education/Kit/main.cfm?pageid=22 (262 words)

	SearchBug Web Search for Alkaptonuria
		Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis.
		Alkaptonuria - Alkaptonuria is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902.
		Alkaptonuria is a rare disease in which the body does not have enough of a specific enzyme.
	www.searchbug.org /websearch.aspx?query=Alkaptonuria (339 words)

	[No title]
		The gene for Alkaptonuria is a recessive mutation.
		Alkaptonuria - Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition
		ALKAPTONURIA - ALKAPTONURIA - The excretion of homogentisic acid (alkapton) in the urine due to the congenital absence of the enzyme homogentisate 1,2-dioxygenase.
	www.diseasedirectory.net /Genetic_Disorders/Alkaptonuria/default.aspx (439 words)

	Alkaptonuria - Genetics Home Reference (Site not responding. Last check: 2007-10-12)
		Alkaptonuria is an inherited condition that causes urine to turn fl when exposed to air.
		Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.
		Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
	ghr.nlm.nih.gov /condition=alkaptonuria (510 words)

	JN 2004; Vol.17 n.3: 441-445 (Site not responding. Last check: 2007-10-12)
		Alkaptonuria (ochronosis) is a rare autosomal recessive metabolic disorder due to homogentisate 1,2-dioxy-genase deficiency (also known as homogentisic acid oxidase (HGO)), an enzyme in tyrosine catabolism (1).
		The treatment of alkaptonuria is symptomatic; however, nitisinone has been proposed as a potential therapy because it inhibits the enzyme that produces HGA (5, 6, 8, 9).
		Alkaptonuria has been found at low prevalence (approximately 1 in 250,000) in all ethnic populations other than the Dominicians and Slovakians where much higher incidences (1 in 19,000 newborns) have been reported, but chronic renal failure in alka-ptonuria is extremely rare (4, 6, 10, 17, 18).
	www.sin-italy.org /jnonline/Vol17n3/441.html (2160 words)

	Clinical Study: 00-HG-0141, Clinical, Biochemical, and Molecular Investigations into Alkaptonuria
		The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease.
		In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes.
		Patients with alkaptonuria who are at least one month old may be eligible for this study.
	clinicalstudies.info.nih.gov /detail/A_2000-HG-0141.html (460 words)

	Statements of Principles — Alkaptonuria — Reasonable hypothesis (Site not responding. Last check: 2007-10-12)
		This is a consolidation of Instrument 13 of 1995 and Instrument 188 of 1995 and is not a legal document.
		(a) the person's alkaptonuria was suffered prior to a period, or part of a period, of service to which the factor is related; and
		(b) the relationship suggested between the alkaptonuria and the particular service of a person is a relationship set out in paragraph 8(1)(e), 9(1)(e), 70(5)(d), or 70(5A)(d) of the Act.
	www.dva.gov.au /pensions/statemnt/p001rh.htm (280 words)

	Statements of Principles — Alkaptonuria — balance of probability (Site not responding. Last check: 2007-10-12)
		This is a consolidation of Instrument 14 of 1995 and Instrument 189 of 1995 and is not a legal document.
		(b) the relationship suggested between the alkaptonuria and the particular service of a person is a relationship set out in paragraph 8(1)(e), 9(1)(e) or 70(5)(d) of the Act.
		"alkaptonuria" means a rare inherited metabolic disorder of tyrosine catabolism in which a deficiency in homogentisic acid oxidase leads to excretion of large amounts of homogentisic acid in urine and accumulation of oxidised homogentisic pigment in connective tissue, attracting ICD code 270.2 or for alkaptonuria arthropothy, 713.0;
	www.dva.gov.au /pensions/statemnt/p001bp.htm (280 words)

	Alkaptonuria Health, Directory (Site not responding. Last check: 2007-10-12)
		MedicineNet.com : Alkaptonuria An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.
		Alkaptonuria and Ochronosis A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed.
		Alkaptonuria A brief discussion about this disease and its statistics world wide.
	www.flashunion.org /ZmxzXzU4NTIz.aspx (138 words)

	Pigmented sclera: a diagnostic challenge? -- 80 (946): 493 -- Postgraduate Medical Journal
		for alkaptonuria by measurement of homogentisic acid in urine.
		Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
		Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.
	pmj.bmjjournals.com /cgi/content/full/80/946/493 (711 words)

	- Northwestern Memorial Hospital - Chicago
		Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns fl when exposed to air.
		Kidney and prostate stones may be more common in people with alkaptonuria.
		Like most genetic diseases, alkaptonuria itself cannot be prevented, but some of the manifestations, such as arthritis, can be minimized by treatment.
	www.nmh.org /nmh/adam/adamencyclopedia/HIEArticles/001200.htm (411 words)

	1908 - Archibald Garrod
		Garrod soon concluded that alkaptonuria is a congenital disorder, not the result of a bacterial infection as was commonly thought.
		Rare in the general population but frequent in children of first-cousin marriages, the incidence of alkaptonuria conformed to the pattern of recessive inheritance described by Gregor Mendel in his experiments with peas.
		He suspected that, due to a genetic defect, patients with alkaptonuria lacked an enzyme involved in the chemical breakdown of protein, one of many chemical pathways collectively called metabolism.
	www.laskerfoundation.org /news/gnn/timeline/1908.html (393 words)

	Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in ...
		Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene -- PORFIRIO et al.
		Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
		Alkaptonuria (AKU, OMIM 203500) is a rare disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO,
	jmg.bmjjournals.com /cgi/content/full/37/4/309 (2097 words)

	Gazette, The (Colorado Springs): Struck down -- but not out
		The surgeon was able to repair his knee, but the odd discovery resulted in a diagnosis of alkaptonuria, a rare disease involving buildup of a substance called homogentisic acid.
		Estimates of the incidence of alkaptonuria range from one in 250,000 to one in a million.
		Alkaptonuria also can cause the bones of the spine to fuse, resulting in pain and a loss of height and flexibility.
	www.findarticles.com /p/articles/mi_qn4191/is_20050314/ai_n14588505 (770 words)

	eMedicine - Alkaptonuria : Article Excerpt by: Karl S Roth, MD (Site not responding. Last check: 2007-10-12)
		Background: Alkaptonuria is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902.
		The true frequency of alkaptonuria cannot be given with certainty for a number of reasons.
		These include the fact that newborn screening for alkaptonuria is much less widely practiced than that for phenylketonuria and the fact that some carriers express 50% or more of normal enzyme activity and do not manifest abnormal findings even with tyrosine loading.
	www.emedicine.com /ped/byname/alkaptonuria.htm (631 words)

	The molecular basis of alkaptonuria - Nature Genetics
		Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as a mendelian recessive trait by Garrod in 1902.
		Alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity.
		Srsen, S., Srsnova, K. and Lanyi, A. Clinical manifestation of alkaptonuria in relation to age [in Slovak].
	www.nature.com /doifinder/10.1038/ng0996-19 (502 words)

	Alkaptonuria - Patient UK
		Alkaptonuria - Patient UK PatientPlus articles are written for doctors and so the language can be technical.
		The name alkaptonuria originates from the dark colour of the urine due to the high level of 2,5-dehydroxyphenylacetic acid from the oxidisation and polymerisation of the homogentisic acid.
		Zatkova A, de Bernabe DB, Polakova H, et al; High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.;Am J Hum Genet 2000 Nov;67(5):1333-9.
	www.patient.co.uk /showdoc/40002334 (1134 words)

	Diagnose-Me: Condition: Ochronosis / Alkaptonuria
		Ochronosis is the muscoskeletal manifestation of alkaptonuria - a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine.
		The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding.
		It is present in citrus fruits, tomatoes, berries, potatoes and fresh, green leafy vegetables.
	www.diagnose-me.com /cond/C451501.html (584 words)

	Alkaptonuria
		Beltrán-Valero de Bernabé D., Jimenez F.J., Aquaron R., Rodríguez de Córdoba S. (1999) Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
		Garrod A.E. (1902) The incidence of alkaptonuria: a study in clinical individuality.
		MA (2000) Structural and functional analysis of mutations in alkaptonuria.
	www.alkaptonuria.cib.csic.es /alkaptonuria.htm (1295 words)

	An unusual palmoplantar pigmentation -- 77 (906): 274 -- Postgraduate Medical Journal
		Alkaptonuria is the first human disease shown to be inherited as an autosomal recessive trait and is due to the absence of
		Alkaptonuria is asymptomatic in childhood and the only sign present in some instances is the dark staining of nappies (diapers).
		the upper dermal collagen further confirms the diagnosis of alkaptonuria.
	pmj.bmjjournals.com /cgi/content/full/77/906/274b (443 words)

	Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot ...
		Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene -- Goicoechea de Jorge et al.
		Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene
		Beltrán-Valero de Bernabé D, Jiménez FJ, Aquaron R, Rodríguez de Córdoba S. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
	jmg.bmjjournals.com /cgi/content/full/39/7/e40 (1802 words)

	Clinical Study: 05-HG-0076, Long-Term Clinical Trial of Nitisinone in Alkaptonuria (Site not responding. Last check: 2007-10-12)
		This 3-year study will examine the safety and effectiveness of long-term use of nitisinone (Orfadin) for treating joint problems in patients with alkaptonuria, an inherited disease in which a compound called homogentisic acid accumulates.
		Patients between 30 and 80 years of age with alkaptonuria may be eligible for this study.
		Participants are randomly assigned to one of two treatment groups: one group takes their regular medicines plus a 2-mg nitisinone capsule daily; the other group takes only their regular medicines.
	clinicalstudies.info.nih.gov /cgi/detail.cgi?A_05-HG-0076.html (582 words)

	Alkaptonuria and photography: A patient's urine tells the story -- Maxwell 172 (8): 1002 -- Canadian Medical ...
		This picture of a patient who had alkaptonuria (Fig.
		Alkaptonuria was the first described "inborn error of metabolism."
		The instantaneous diagnosis of alkaptonuria on a single drop of urine.
	www.cmaj.ca /cgi/content/full/172/8/1002 (699 words)

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