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hartnup disease - inherited aminoacid disorder
Definition for Hartnup disease
Hartnup disease, or Hartnup's disease, or Hartnup disorder, is an autosomal resssive genetic metabolic disorder in the absorption of the amino acidtryptophan that can be, in turn, converted into Serotonin, Melatonin and Niacin.
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Hartnup disease, or Hartnup's disease, or Hartnup disorder, is an autosomal resssive genetic metabolic disorder in the absorption of the amino acidtryptophan that can be, in turn, converted into Serotonin, Melatonin and Niacin. Niacin is a precursor to nicotinamide, a necessary component of NAD+.
The causative gene is located on chromosome 5.
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some common symptoms
delayed development
photophobia
rash
tremor
some related diagnoses
1 - 3 of
3
diagnoses
drugs and toxins
malnutrition
Chediak-Higashi disease
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do i have 'Hartnup disease'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'hartnup disease'
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12
diagnostic tests
Urine chromatography
Hartnup disease and Urine chromatography
Plasma amino acids
Hartnup disease and Plasma amino acids
Serum Tryptophan
Hartnup disease and Serum Tryptophan
Biopsy skin
Hartnup disease and Biopsy skin
Jejunal biopsy
Hartnup disease and Jejunal biopsy
Urinalysis
Examination of urine to detect disease
Hartnup disease and Urinalysis
Biopsy small bowel
Hartnup disease and Biopsy small bowel
Developmental testing
Hartnup disease and Developmental testing
Serum Organic Acids
Hartnup disease and Serum Organic Acids
urine Organic Acids
Hartnup disease and urine Organic Acids
urine amino acids
Hartnup disease and urine amino acids
urine pH
Hartnup disease and urine pH
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therapeutic procedures for 'Hartnup disease'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Hartnup disease:
therapeutic procedure search results for 'hartnup disease'
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Sun protection
Hartnup disease and Sun protection
medications search results for 'hartnup disease'
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Vitamin B-3
Hartnup disease and Vitamin B-3
niacin
(a.k.a niacin, Niacor)
Hartnup disease and niacin
niacin
(a.k.a niacin, Slo-Niacin)
Hartnup disease and niacin
web search results for hartnup disease
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1 - 50
- Hartnup disease
Hartnup disease - Wikipedia, the free encyclopedia
Consequently, a person with Hartnup disease cannot absorb amino acids properly ... Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein ...
http://en.wikipedia.org/wiki/Hartnup_disease
en.wikipedia.org
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Hartnup Disease - Yahoo! Health
Important It is possible that the main title of the report Hartnup Disease is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/other-other/hartnup-disease/healthwise--nord347.html
health.yahoo.com
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summary
Hartnup Disease: Tubular and Cystic Kidney Disorders: Merck Manual Home ...
Hartnup disease occurs when a person inherits two copies of the abnormal gene ... Consequently, a person with Hartnup disease cannot absorb amino acids properly ...
http://www.merck.com/mmhe/print/sec11/ch146/ch146h.html
www.merck.com
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Persistence of the common Hartnup disease D173N allele in populations ...
Persistence of the common Hartnup disease D173N allele in populations of European origin. ... Hartnup Disease/genetics* Humans. Male. Microsatellite Repeats ...
http://www.ncbi.nlm.nih.gov/pubmed/17555458
www.ncbi.nlm.nih.gov
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Hartnup Disease: Tubular and Cystic Kidney Disorders: Merck Manual Home ...
Hartnup disease is a rare hereditary disorder that results in a skin rash and ... Hartnup disease occurs when a person inherits two copies of the abnormal gene ...
http://www.merck.com/mmhe/sec11/ch146/ch146h.html
www.merck.com
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Hartnup Disease: Renal Transport Abnormalities: Merck Manual Professional
Hartnup disease is a rare disease due to abnormal absorption and excretion of ... Hartnup disease is inherited as an autosomal recessive trait. ...
http://www.merck.com/mmpe/sec19/ch291/ch291d.html
www.merck.com
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HARTNUP DISEASE - Pedbase.org
maternal Hartnup Disease is likely benign to the fetus. CLINICAL FEATURES: 1. Episodic ... 1994 -2007 Pedbase.org. Powered by Database of Pediatrics- HARTNUP DISEASE ...
http://pedbase.org/h/hartnup-disease/
pedbase.org
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Talk:Hartnup disease - Wikipedia, the free encyclopedia
Talk:Hartnup disease. From Wikipedia, the free encyclopedia. Jump to: navigation, search. This article is within the scope of WikiProject Medicine. ...
http://en.wikipedia.org/wiki/Talk:Hartnup_disease
en.wikipedia.org
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Natural history of Hartnup disease.
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 New South Wales. ...
http://www.ncbi.nlm.nih.gov/pubmed/836052
www.ncbi.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable health ... Hartnup Disease. Hartnup Disorder ...
http://www.webmd.com/a-to-z-guides/health-topics/ha-he.htm
www.webmd.com
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Table of Contents: Dermatology
emedicine features up-to-date, searchable, peer-reviewed medical journals in emergency medicine, internal medicine, ... Hartnup Disease. Homocystinuria ...
http://author.emedicine.com/derm/PEDIATRIC_DISEASES.htm
author.emedicine.com
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Niacin (Oral Route, Parenteral Route) - MayoClinic.com
Mayo Clinic offers award-winning medical and health ... Hartnup disease. Infection (prolonged) Intestinal problems. Liver disease. Mouth or throat sores ...
http://www.mayoclinic.com/health/drug-information/DR602111
www.mayoclinic.com
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Encyclopedia H-Hz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Hartnup Disease. Hay-Wells Syndrome ...
http://health.yahoo.com/ency/h/
health.yahoo.com
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List of eponymous diseases - Wikipedia, the free encyclopedia
Albright-Butler-Bloomberg disease ? Fuller Albright, Allan Macy Butler, Esther ... Hartnup disease. Hashimoto thyroiditis ? Hakaru Hashimoto. Heyde's syndrome ...
http://en.wikipedia.org/wiki/List_of_eponymous_diseases
en.wikipedia.org
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Hartnup disorder: polymorphisms identified in the neutral amino acid ...
However, SLC1A5 was not linked to the Hartnup phenotype in other families. ... Hartnup Disease/genetics* Humans. Linkage (Genetics)/genetics. Mutation/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/12555937
www.ncbi.nlm.nih.gov
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summary
Index: AM: Merck Manual Professional
malabsorption of (Hartnup disease) Hartnup Disease. metabolic defects of. Carnitine Deficiency ... Inflammatory Bowel Disease (IBD): 5-Aminosalicylic acid (5 ...
http://merck.com/mmpe/index/ind_am.html
merck.com
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2008 MeSH Tree Structures. C18 - Nutritional and Metabolic Diseases
Hartnup Disease [C18.452.132.100.355] Hepatolenticular Degeneration [C18.452.132.100.360] ... Hartnup Disease [C18.452.648.151.355] Oculocerebrorenal Syndrome ...
http://www.nlm.nih.gov/mesh/trees2008/C18.html
www.nlm.nih.gov
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Index: HA: Merck Manual Home Edition
Functional Peripheral Arterial Disease: Raynaud's Syndrome ... Hartnup disease. Hartnup Disease. Niacin: Niacin Deficiency. Hashimoto's thyroiditis ...
http://www.merck.com/mmhe/index/ind_ha.html
www.merck.com
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[Clinical studies of pediatric malabsorption syndromes]
... hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride ... Disease Type I/therapy. Hartnup Disease/complications. Hartnup Disease ...
http://www.ncbi.nlm.nih.gov/pubmed/17228786
www.ncbi.nlm.nih.gov
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Hartnup disorder
Hartnup disorder is an inherited metabolic disorder involving the transport of certain amino acids (for example, ... .com Health's Disease and Condition ...
http://adam.about.com/encyclopedia/001201trt.htm
adam.about.com
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summary
List of diseases (H) - Wikipedia, the free encyclopedia
Hailey-Hailey disease. Hair defect with photosensitivity ... Hartnup disease. Hartsfield Bixler Demyer syndrome. Hashimoto struma. Hashimoto-Pritzker syndrome ...
http://en.wikipedia.org/wiki/List_of_diseases_(H)
en.wikipedia.org
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Hypophosphatemic Rickets: Tubular and Cystic Kidney Disorders: Merck ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease·Hypophosphatemic Rickets· Liddle ... Previous: Hartnup Disease. Next: Liddle Syndrome. Audio. Figures ...
http://www.merck.com/mmhe/sec11/ch146/ch146g.html
www.merck.com
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Homozygosity mapping to chromosome 5p15 of a gene responsible for ...
Hartnup disorder is an autosomal recessive phenotype involving ... Hartnup Disease/diagnosis. Hartnup Disease/genetics* Hartnup Disease/metabolism. Homozygote ...
http://www.ncbi.nlm.nih.gov/pubmed/11394870?dopt=Abstract
www.ncbi.nlm.nih.gov
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Polycystic Kidney Disease (PKD): Tubular and Cystic Kidney Disorders ...
Polycystic Kidney Disease (PKD) Symptoms and Complications. Diagnosis, ... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ...
http://www.merck.com/mmhe/sec11/ch146/ch146k.html
www.merck.com
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Niacin: Vitamins: Merck Manual Home Edition
... develops in people who have Hartnup disease, a rare hereditary disorder in which ... is impaired (see Tubular and Cystic Kidney Disorders: Hartnup Disease) ...
http://www.merck.com/mmhe/sec12/ch154/ch154c.html
www.merck.com
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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Hartnup disorder, an autosomal recessive defect named after an English family ... Hartnup Disease/genetics* Humans. Kidney/metabolism. Male. Mice. Mice, Inbred C57BL ...
http://www.ncbi.nlm.nih.gov/pubmed/15286787
www.ncbi.nlm.nih.gov
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summary
Xeroderma pigmentosa
About.com Health's Disease and Condition content is ... Hartnup Disease. Explore Health Topics A-Z. Must Reads. A.D.A.M. Illustrated Health Encyclopedia ...
http://adam.about.com/HIE/001467trt.htm
adam.about.com
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2008 MeSH Tree Structures. C10 - Nervous System Diseases
Nervous System Autoimmune Disease, Experimental [C10.114.703] ... Parkinson Disease, Secondary [C10.228.140.079.862.800] ... Hartnup Disease [C10.228.140.163.100.355] ...
http://www.nlm.nih.gov/mesh/trees2008/C10.html
www.nlm.nih.gov
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Hartnup disorder is caused by mutations in the gene encoding the ...
The disease-causing mutations that we tested reduced neutral amino acid ... Hartnup Disease/genetics* Humans. Kidney/metabolism. Molecular Sequence Data. Mutation ...
http://www.ncbi.nlm.nih.gov/pubmed/15286788
www.ncbi.nlm.nih.gov
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Inborn error of metabolism - Wikipedia, the free encyclopedia
... (E70.0), maple syrup urine disease (E71.0), glutaric acidemia type 1 ... Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein ...
http://en.wikipedia.org/wiki/Metabolic_disease
en.wikipedia.org
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Renal Tubular Acidosis (RTA): Tubular and Cystic Kidney Disorders ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... Usually caused by a hereditary disease such as Fanconi syndrome, hereditary ...
http://www.merck.com/mmhe/sec11/ch146/ch146b.html
www.merck.com
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Aminoaciduria
Canavan disease. Cystinosis. Cystathioninuria. Fructose intolerance. Galactosemia. Hartnup disease. Homocystinuria. Hyperammonemia. Hyperparathyroidism. Maple ...
http://adam.about.com/encyclopedia/Aminoaciduria.htm
adam.about.com
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Fanconi Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual ...
... · Cystinuria·Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... Next: Hartnup Disease. Audio. Figures. Photographs. Pronunciations ...
http://www.merck.com/mmhe/sec11/ch146/ch146f.html
www.merck.com
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Index: HA: Merck Manual Professional
Chronic Obstructive Pulmonary Disease (COPD): Oxygen. Half-and-half nails ... Hartnup disease. Hartnup Disease. Hashimoto's thyroiditis ...
http://merck.com/mmpe/index/ind_ha.html
merck.com
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Urine screening for aminoacidopathies: is it beneficial? Results of a ...
... identified were cystinuria, histidinemia, Hartnup disease, and iminoglycinuria. ... argininosuccinic aciduria, and to some patients with Hartnup disease. ...
http://www.ncbi.nlm.nih.gov/pubmed/7411317
www.ncbi.nlm.nih.gov
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Search Results
Hartnup Disease: Renal Transport Abnormalities: Merck Manual Professional. Hartnup disease is a rare disease due to abnormal absorption and excretion of ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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Hartnup disorder
Hartnup disorder is an inherited metabolic condition that involves the transport ... (comedones) close-up Peripheral artery disease Blood in the semen Blood pressure ...
http://adam.about.com/encyclopedia/infectiousdiseases/Hartnup-disorder.htm
adam.about.com
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Maple syrup urine disease - Wikipedia, the free encyclopedia
Maple Syrup Urine Disease (Overview on NLM) ... Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein ...
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
en.wikipedia.org
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234500
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=234500
www.ncbi.nlm.nih.gov
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MedlinePlus Medical Encyclopedia: Aminoaciduria
Canavan disease. Cystinosis. Cystathioninuria. Fructose intolerance. Galactosemia. Hartnup disease. Homocystinuria. Hyperammonemia. Hyperparathyroidism. Maple ...
http://www.nlm.nih.gov/medlineplus/ency/article/003366.htm
www.nlm.nih.gov
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Hartnup Disease
Important It is possible that the main title of the report Hartnup Disease is not the name you expected. ...
http://www.webmd.com/children/Hartnup-Disease
www.webmd.com
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Nephrogenic Diabetes Insipidus: Tubular and Cystic Kidney Disorders ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... However, females who carry the gene can transmit the disease to their sons. ...
http://www.merck.com/mmhe/sec11/ch146/ch146d.html
www.merck.com
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Bartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... Medullary Cystic Disease Complex· Polycystic Kidney Disease (PKD)· Renal ...
http://www.merck.com/mmhe/sec11/ch146/ch146i.html
www.merck.com
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Nephronophthisis?Medullary Cystic Disease Complex: Tubular and Cystic ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... Medullary cystic disease is inherited as an autosomal dominant ...
http://www.merck.com/mmhe/sec11/ch146/ch146l.html
www.merck.com
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Fanconi Syndrome: Renal Transport Abnormalities: Merck Manual Professional
Introduction· Cystinuria·Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets ... Next: Hartnup Disease. Audio. Figures. Photographs. Sidebars. Tables. Videos ...
http://www.merck.com/mmpe/sec19/ch291/ch291c.html
www.merck.com
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Index: GE: Merck Manual Home Edition
of Hartnup disease. Hartnup Disease. of Huntington's disease. Genetic ... Gerstmann-Sträussler-Scheinker disease. Gerstmann-Sträussler-Scheinker Disease ...
http://www.merck.com/mmhe/index/ind_ge.html
www.merck.com
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Index: RA: Merck Manual Home Edition
in Hartnup disease. Hartnup Disease. in hot-tub folliculitis ... Functional Peripheral Arterial Disease: Raynaud's Syndrome. in mixed connective tissue syndrome ...
http://www.merck.com/mmhe/index/ind_ra.html
www.merck.com
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Aminoaciduria and hyperaminoaciduria in childhood.
Hartnup Disease/urine. Humans. Hydroxyproline/urine. Hypophosphatasia/urine. Infant. Infant, Newborn ... Renal Tubular Transport, Inborn Errors/urine ...
http://www.ncbi.nlm.nih.gov/pubmed/4593448
www.ncbi.nlm.nih.gov
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Renal Glucosuria: Tubular and Cystic Kidney Disorders: Merck Manual ...
... · Cystinuria· Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets· Liddle ... Medullary Cystic Disease Complex· Polycystic Kidney Disease (PKD)·Renal ...
http://www.merck.com/mmhe/sec11/ch146/ch146c.html
www.merck.com
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Index: AM: Merck Manual Home Edition
in Hartnup disease. Hartnup Disease. metabolism of, disorders of. Amino Acid Metabolism ... Occlusive Peripheral Arterial Disease: Arteries of the Legs and Arms ...
http://www.merck.com/mmhe/index/ind_am.html
www.merck.com
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