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Topic: Hartnup disease

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	Hartnup Disease: Encyclopedia of Medicine (Site not responding. Last check: 2007-10-16)
		Hartnup disease is an inherited nutritional disorder with primary symptoms including a red, scaly rash and sensitivity to sunlight.
		Hartnup disease was first identified in the 1950s in the Hartnup family in London.
		Hartnup disease is an in-born error of metabolism, that is, a condition where certain nutrients cannot be digested and absorbed properly.
	health.enotes.com /medicine-encyclopedia/hartnup-disease (169 words)

	Hartnup Disease - Medstudents - Neprhology
		Hartnup disease is a rare genetic disorder of amino acid transport, presenting intermittent and variable clinical abnormalities.
		Hartnup disease is classified in the group of the Neutral Aminoacidurias, since the amino acids lost in the urine are the so called neutral amino acids : tryptophan, alanine, asparagine, glutamine, histidine,isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.
		The pathologic hallmark of Hartnup disease is the defective transport of basic amino acids (excluding the ones previously mentioned) by the jejunal mucous membranes and proximal renal tubules.
	www.medstudents.com.br /nefro/nefro3.htm (880 words)

	CIGNA - Hartnup Disease
		Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait.
		The diagnosis of Hartnup disease may be confirmed by urine analysis performed during routine screening at birth that detects a unique pattern of amino acids in the urine.
		Hartnup disease is caused by mutations in the gene encoding the natural amino acid transporter SLC6A19.
	www.cigna.com /healthinfo/nord347.html (1412 words)

	Gluten Sensitive Enteropathy As A Cause Of Hartnup's Disease
		Hartnup's disease is an autosomal recessive disorder due to defective transport of Neutral aminoacids(monoamino monocarboxylic) in the small intestine and kidneys.
		Hartnup's disease has a prevalence rate of one per 24,000 population and is one of the most common amino acid disorders in humans.
		Hartnup's disease is an autosomal recessive disorder due to defective transport of Neutral aminoacids(monoamino monocarboxylic) in the small intestine and kidneys.Patients usually present with skin lesions, cerebellar ataxia and gross amino aciduria.Heterozygotes are normal.
	www.ispub.com /ostia/index.php?xmlFilePath=journals/ijfp/vol4n2/gluten.xml (1583 words)

	Rare Pediatric Disease Database
		Hartnup disease is a rare, inherited condition where the body cannot absorb certain amino acids, especially tryptophan.
		Hartnup disease is inherited in an autosomal recessive manner.
		Hartnup disease is caused by a change in a gene called “Solute carrier Family 6” (SLC6A19), which is located on chromosome 5.
	www.madisonsfoundation.org /content/3/1/display.asp?did=568 (561 words)

	Hartnup Disease
		Hartnup disease is a rare metabolic disorder inherited as a recessive trait.
		Hartnup disease is an inherited metabolic disorder characterized by red, scaly light-sensitive (photosensitive) rashes on the face, arms, extremities, and other exposed areas of skin.
		Hartnup disease is inherited as a recessive trait.
	hw.healthdialog.com /kbase/nord/nord347.htm (1300 words)

	Hartnup disease - Genesis Health System
		People with Hartnup disease are not able to absorb some of the amino acids (the smaller building blocks that make up proteins) in their intestines.
		Although this is an inherited disease, the development of symptoms depends on a variety of factors including diet, environment, and other genetic traits controlling amino acid levels in the body.
		The diagnosis of Hartnup disease is confirmed by a laboratory test of the urine which will contain an abnormally high amount of amino acids (aminoaciduria).
	www.genesishealth.com /conditions/DetailedDisease/000609.aspx (725 words)

	eMedicine - Hartnup Disease : Article Excerpt by: Lidija Kandolf Sekulovic, MD, PhD
		Background: Hartnup disease is an autosomal recessive disorder caused by defective transport of neutral (ie, monoaminomonocarboxylic) amino acids in the small intestine and the kidneys.
		Hartnup disease is inherited as an autosomal recessive trait.
		Resorption of the peptides may partially compensate for the lack of amino acid transport in persons with Hartnup disorder, and thus phenotypic variability is wide, which may result from a number of factors: differential resorption, allelic and genetic heterogeneity, modifier genes, and dietary intake.
	www.emedicine.com /derm/byname/hartnup-disease.htm (594 words)

	Hartnup disorder (Disease)... Fort Lauderdale, Florida (Site not responding. Last check: 2007-10-16)
		Hartnup disorder is an inherited metabolic disorder involving the transport of certain amino acids (for example, tryptophan and histidine) in the small intestine and kidneys.
		Hartnup disorder is possibly the most common metabolic condition involving amino acids.
		It is a genetic disorder inherited in an autosomal recessive manner, which means that the child must inherit the defective gene from both parents in order to be seriously affected.
	www.browardhealth.org /16989.cfm (420 words)

	Hartnup Disease
		Hartnup disease is an inherited inborn error of metabolism of amino acids in the small intestine and kidneys.
		Hartnup disease is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene (one from each parent) to have the disorder.
		Because Hartnup disease is inherited, individuals are born with the disorder, but many have no symptoms.
	www.malattiemetaboliche.it /articoli/hartnup_disease.htm (285 words)

	[No title]
		Hartnup disorder is a familial disorder of renal and intestinal amino acid transport.
		Thus, the cause of Hartnup “disease” is multifactorial.
		Hartnup disorder has an autosomal recessive inheritance pattern; males and females are about equally represented, sibs are often affected, and parents have normal urine amino acid profiles.
	malattierare.pediatria.unipd.it /pubblicaMR/mr_dx_ing.asp?mr=462 (1373 words)

	Medical Dictionary: Hartnup disease - WrongDiagnosis.com
		Hartnup disease : disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms; ataxia, personality changes, migraine headaches, and photophobia may occur periodically; results from impaired sodium\-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium.
		Hartnup disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Hartnup disease, or a subtype of Hartnup disease, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/hartnup_disease.htm (290 words)

	untitled (Site not responding. Last check: 2007-10-16)
		Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is an autosomal recessively inherited metabolic disorder caused by a deficiency in the mitochondrial BCKDC.(4,12) This metabolic block results in increased concentrations of branched-chain amino acids and a-ketoacids in the blood, tissues, and urine of MSUD patients.
		Maple syrup urine disease is a serious inherited metabolic disease that results in ketoaciduria, seizures, mental retardation, and even death in many infants if not properly treated immediately with a diet low in the branched-chain amino acids leucine, isoleucine, and valine.
		Huntington's disease is an autosomal dominant syndrome which means any one of the parents is patient, the child will have a 50% chance to be a new patient.
	opbs.okstate.edu /~leach/Bioch5853/Minireviews/minireviews_2.1997.html (9435 words)

	Hartnup Disease: Tubular and Cystic Kidney Disorders: Merck Manual Home Edition
		Hartnup disease is a rare hereditary disorder that results in a skin rash and brain abnormalities because tryptophan and certain other amino acids are not well absorbed from the intestine and not well reabsorbed by the kidneys.
		Hartnup disease occurs when a person inherits two copies of the abnormal gene for the disorder, one from each parent.
		Consequently, a person with Hartnup disease cannot absorb amino acids properly from the intestine and cannot reabsorb them properly from tubules in the kidneys.
	www.merck.com /mrkshared/mmanual_home2/sec11/ch146/ch146h.jsp (376 words)

	Hartnup Disease
		Hartnup disease - definition of Hartnup disease in the Medical dictionary - by t...
		Hartnup disease -- Halvorsen and Halvorsen 31 (1): 29 -- Pediatrics...
		Hartnup Disease - St. Joseph Mercy, Ann Arbor Michigan...
	www.scienceoxygen.com /disease/1104.html (137 words)

	eMedicine - Hartnup Disease : Article by Lidija Kandolf Sekulovic, MD, PhD
		In addition, a case of Hartnup disease presenting for the first time in an adult female, after prolonged lactation and increased physical activity, is described.
		History: Hartnup disease is manifested by a wide clinical spectrum (see Physical for a complete discussion of the clinical signs).
		Failure to diagnose and to treat Hartnup disease because of the wide clinical spectrum of the disease, especially in patients with mild skin involvement, is a pitfall.
	www.emedicine.com /derm/topic713.htm (2556 words)

	Hartnup Disease Information on Healthline
		The symptoms of this disease suggest a deficiency of a B vitamin called niacin.
		The typical dosage ranges from 40–200 mg of nicotinamide (a form of niacin) per day to prevent pellagra-like symptoms.
		Symptoms can usually be controlled with a high protein diet, vitamin supplements of niacin, and by avoiding the stresses that contribute to attacks of symptoms.
	www.healthline.com /galecontent/hartnup-disease (730 words)

	Scientists discover Hartnup gene - Health and medical - The University of Sydney
		The researchers found that the disease is due to a defect in the gene which encodes the protein normally responsible for transporting amino acids, the building blocks of proteins, in the kidney and intestine.
		Hartnup Disease was first described in a family from Britain in 1956.
		Scientists have been looking for the gene responsible for Hartnup Disorder for more than 50 years and it is thanks to the mapping of the human genome that the Sydney researchers were able to make the discovery.
	www.usyd.edu.au /research/news/2004/oct/01_gene.shtml (467 words)

	AMINO ACID TRANSPORT DISORDER, NEUTRAL (HARTNUP DISEASE) (Site not responding. Last check: 2007-10-16)
		Hartnup disorder is caused by mutations in the gene encoding the...
		Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter...
		Disease, H, Disease, Hartnup, H DISEASE, HART SYNDROME, Hartnup Disease, Hartnup disorder, Neutral 1 amino acid transport defect, Neutral amino acid transport defect, Neutral aminoacid transp def...
	www.gratelier.de /70275 (244 words)

	Natural history of Hartnup disease -- Wilcken et al. 52 (1): 38 -- Archives of Disease in Childhood (Site not responding. Last check: 2007-10-16)
		Articles by Brown, D. Archives of Disease in Childhood, Vol 52, 38-40, Copyright © 1977 by Archives of Disease in Childhood.
		Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the
		Hartnup disease has an incidence of approximately 1 in 33 000 in
	adc.bmjjournals.com /cgi/content/abstract/archdischild;52/1/38 (184 words)

	Hartnup disease -
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Some diseases, such as influenza, are contagious or infectious, and can be transmitted by any of a variety of mechanisms, including droplets from coughs and sneezes, by bites of insects or other vectors, from contaminated water or food, etc.
		Other hartnup disease pellagra diseases, such as cancer and heart disease are not considered to be due to infection, although micro-organisms may play a role.
	www.medicalgeo.com /Med-Diseases-H---Hi/Hartnup-disease.html (648 words)

	Lab Findings in Nutrition and Metabolic Disease
		Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.
		Wilson's disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver.
		The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue.
	www.hoslink.com /LabResults/Nutrition_Metabolic.htm (3909 words)

	AccessMedicine - Harrison's Internal Medicine: Hartnup Disease
		"Hartnup disease (frequency 1 in 24,000) is an autosomal recessive disorder characterized by pellagra-like skin lesions, variable neurologic manifestations, and neutral and aromatic aminoaciduria.
		Alanine, serine, threonine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan, glutamine, asparagine, and histidine are excreted in urine in quantities 5 to 10 times normal, and intestinal transport of these same amino acids is defective.
		The diagnosis of Hartnup disease should be suspected in any patient with clinical features of pellagra who does not have a history of dietary niacin deficiency (Chap.
	www.accessmedicine.com /content.aspx?aID=103589 (270 words)

	Hartnup disease Encyclopedia of Medicine - Find Articles
		"Hartnup disease." In Cecil Textbook of Medicine, 20th ed., Vol.
		"Hartnup disease." In The Merck Manual of Diagnosis and Therapy, edited by Robert Berkow.
		"Neutral aminoaciduria: Hartnup disease." In Internal Medicine, 5th ed., edited by Jay H. Stein.
	www.findarticles.com /p/articles/mi_g2601/is_0006/ai_2601000621 (776 words)

	Cecil Textbook of Medicine : />
		Hartnup disease, a neutral aminoaciduria, is a rare autosomal recessive disorder (1 in 26,000 births) in which the clinical presentation is dominated by nicotinamide deficiency.
		Because 50% of nicotinamide normally is supplied by metabolism of tryptophan, malabsorption and renal loss of tryptophan contribute to nicotinamide deficiency, especially when dietary nicotinamide is insufficient.
		Hartnup disease should be suspected in a patient with pellagra or cerebellar symptoms without a history of niacin deficiency.
	www.merckmedicus.com /ppdocs/us/common/cecils/chapters/122_010.htm (148 words)

	Hartnup Disease \| Your Health Connection (Site not responding. Last check: 2007-10-16)
		About 10-20% of people with Hartnup disease do have symptoms.
		The typical dosage ranges from 40-200 mg of nicotinamide (a form of niacin) per day to prevent pellagra-like symptoms.
		Tryptophan is converted by the body to niacin, one of the B vitamins.
	accenture.yourhealthconnection.com /topic/topic100586903 (797 words)

	[No title]
		Summary: Hartnup disease is biochemically characterized by defective transport of neutral amino acids (including tryptophan) across the intestine and kidney.
		Patients have infantile or childhood onset and have a pellagra-like skin rash accompanied by neurologic exacerbations.
		Attaks of disease are triggered by exposure to sunlight, emotional stress, and sulfonamide drugs and last for about 2 weeks.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNF2IE02.htm (260 words)

	Hartnup disease - General Practice Notebook (Site not responding. Last check: 2007-10-16)
		Hartnup disease is a type of renal aminoaciduria characterised by selective failure of tubular reabsorption of a number of monoamino-monocarboxylic acids such as tryptophan.
		This condition is inherited as an autosomal recessive disease.
		Oxbridge Solutions Ltd® is an independent company owned by the authors which does not receive income from any other organisation or individual.
	www.gpnotebook.co.uk /cache/335937544.htm (150 words)

	Hartnup's disease
		A 12 -year-old child is suspected of having pellagra because of chronic symptoms including diarrhea, a red scaly rash, and mild cerebellar ataxia.
		The correct answer is D. The child has Hartnup's disease.
		Ehlers-Danlos syndrome (choice C) is a disease characterized by abnormal collagen formation leading to very elastic SKIN, joint problems, and fragility of some blood vessels and the intestines.
	www.aippg.net /forum/viewtopic.php?p=70184 (283 words)

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