Hartnup disease: Difference between revisions
m Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +) |
Rim Halaby (talk | contribs) No edit summary |
||
| Line 1: | Line 1: | ||
__NOTOC__ | |||
{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = {{PAGENAME}} | | Name = {{PAGENAME}} | | ||
| Line 14: | Line 15: | ||
}} | }} | ||
{{SI}} | {{SI}} | ||
{{CMG}} | |||
==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''', 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+. | ||
| Line 32: | Line 33: | ||
* [[Cystinosis]] | * [[Cystinosis]] | ||
* [[Cystinuria]] | * [[Cystinuria]] | ||
{{Endocrine, nutritional and metabolic pathology}} | {{Endocrine, nutritional and metabolic pathology}} | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
Revision as of 19:40, 5 January 2014
| Hartnup disease | |
 | |
|---|---|
| Tryptophan | |
| ICD-10 | E72.0 |
| ICD-9 | 270.0 |
| OMIM | 234500 |
| DiseasesDB | 5638 |
| eMedicine | derm/713 |
| MeSH | D006250 |
|
WikiDoc Resources for Hartnup disease |
|
Articles |
|---|
|
Most recent articles on Hartnup disease Most cited articles on Hartnup disease |
|
Media |
|
Powerpoint slides on Hartnup disease |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on Hartnup disease at Clinical Trials.gov Trial results on Hartnup disease Clinical Trials on Hartnup disease at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Hartnup disease NICE Guidance on Hartnup disease
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Hartnup disease Discussion groups on Hartnup disease Patient Handouts on Hartnup disease Directions to Hospitals Treating Hartnup disease Risk calculators and risk factors for Hartnup disease
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Hartnup disease |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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+.
The causative gene is located on chromosome 5.
Symptoms
Hartnup disease manifest during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor. 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.