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{{Infobox_Disease |
__NOTOC__
  Name          = {{PAGENAME}} |
{{Hartnup disease}}
  Image          = L-tryptophan-skeletal.png  |
  Caption        = [[Tryptophan]] |
  DiseasesDB    = 5638 |
  ICD10          = {{ICD10|E|72|0|e|70}} |
  ICD9          = {{ICD9|270.0}} |
  ICDO          = |
  OMIM          = 234500 |
  MedlinePlus    = |
  eMedicineSubj  = derm |
  eMedicineTopic = 713 |
  MeshID        = D006250 |
}}
{{SI}}


{{CMG}};


==[[Hartnup Disease overview|Overview]]==


'''Hartnup disease''', or '''Hartnup's disease''', or '''Hartnup disorder''', is an autosomal recessive genetic metabolic disorder in the absorption of the [[amino acid]] [[tryptophan]] that can be, in turn, converted into [[Serotonin]], [[Melatonin]] and [[Niacin]].  Niacin is a precursor to [[nicotinamide]], a necessary component of NAD+.
==[[Hartnup Disease historical perspective|Historical Perspective]]==


The causative gene is located on chromosome 5. 
==[[Hartnup Disease classification|Classification]]==


==Symptoms==
==[[Hartnup Disease pathophysiology|Pathophysiology]]==


Hartnup disease manifest during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor.
==[[Hartnup Disease causes|Causes]]==
Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the [[kidney]], and intestinal mucosal cells found in the [[small intestine]].  Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine. 


[[Pellagra]] is also caused by low nicotinamide; this disorder results in [[dermatitis]], [[diarrhea]] and [[dementia]].
==[[Hartnup Disease differential diagnosis|Differentiating Any Disease from other Diseases]]==


==See also==
==[[Hartnup Disease epidemiology and demographics|Epidemiology and Demographics]]==


* [[Cystinosis]]
==[[Hartnup Disease risk factors|Risk Factors]]==
* [[Cystinuria]]


==External links==
==[[Hartnup Disease screening|Screening]]==  


* [http://www.umm.edu/ency/article/001201.htm University of Maryland]
==[[Hartnup Disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
[[Hartnup Disease history and symptoms|History and Symptoms]] | [[Hartnup Disease physical examination|Physical Examination]] | [[Hartnup Disease laboratory findings|Laboratory Findings]] | [[Hartnup Disease electrocardiogram|Electrocardiogram]] |[[Hartnup Disease chest x ray|Chest X Ray]] | [[Hartnup Disease CT|CT]] | [[Hartnup Disease MRI|MRI]] |  | [[Hartnup Disease other imaging findings|Other Imaging Findings]] | [[Hartnup Disease other diagnostic studies|Other Diagnostic Studies]]


{{Endocrine, nutritional and metabolic pathology}}
==Treatment==
[[de:Hartnup-Krankheit]]
[[Hartnup Disease medical therapy|Medical Therapy]] | [[Hartnup Disease surgery|Surgery]] | [[Hartnup Disease primary prevention|Primary Prevention]] | [[Hartnup Disease secondary prevention|Secondary Prevention]] | [[Hartnup Disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Hartnup Disease future or investigational therapies|Future or Investigational Therapies]]
[[fr:Maladie de Hartnup]]
[[pl:Choroba Hartnupów]]


==Case Studies==
[[Hartnup Disease case study one|Case #1]]




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Latest revision as of 18:28, 2 June 2016

Hartnup Disease Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hartnup Disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Surgery

Medical Therapy

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Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Any Disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram |Chest X Ray | CT | MRI | | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

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