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Hartnup Disease

An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Also Known As:
Hartnup Disorder; Neutral Amino Acid Transport Defect; Transport Disorder, Neutral Amino Acids; Amino Acid Transport Disorder, Neutral; Neutral Amino Acid Transport Disorder; Transport Disorder, Neutral Amino Acid
Networked: 65 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Maple Syrup Urine Disease
2. Propionic Acidemia
3. Tyrosinemias (Tyrosinemia)
4. Citrullinemia
5. Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)

Experts

1. Bröer, Stefan: 8 articles (06/2009 - 06/2004)
2. Rasko, John E J: 5 articles (10/2008 - 06/2004)
3. Bröer, Angelika: 4 articles (08/2008 - 06/2004)
4. Verrey, François: 3 articles (04/2015 - 01/2005)
5. Camargo, Simone M R: 3 articles (09/2012 - 01/2005)
6. Kowalczuk, Sonja: 3 articles (10/2008 - 06/2004)
7. Cavanaugh, Juleen A: 3 articles (10/2008 - 09/2004)
8. Singer, Dustin: 2 articles (09/2012 - 09/2011)
9. Ramadan, Tamara: 2 articles (09/2012 - 01/2005)
10. Penninger, Josef M: 2 articles (09/2012 - 03/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hartnup Disease:
1. tryptophan ethyl esterIBA
2. Amino AcidsFDA Link
3. Tryptophan (L-Tryptophan)FDA Link
4. HistidinemiaIBA
5. DiamondIBA
6. TransferasesIBA
7. Carnitine (L-Carnitine)FDA LinkGeneric
8. Methylmalonic acidemiaIBA
9. Systemic carnitine deficiencyIBA
10. N-acetyltalosaminuronic acid (NAT)IBA