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Hartnup Disease
Definition: An autosomal recessive disorder due to defective absorption of PROXIMAL RENAL TUBULES 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.

Synonym(s): Amino Acid Transport Disorder, Neutral / Neutral Amino Acid Transport Disorder / Transport Disorder, Neutral Amino Acid / Neutral Amino Acid Transport Defect / Transport Disorder, Neutral Amino Acids
See also:
Indican   

MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Hartnup Disease"
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view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 

Broader term(s): - Brain Diseases - Central Nervous System Diseases - Nervous System Diseases - Kidney Diseases - Urologic Diseases - Male Urogenital Diseases - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Broader term(s): - Nervous System Diseases - Kidney Diseases
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  Medical News for "Hartnup Disease"
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Broader term(s): - Nervous System Diseases

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  Scientific articles from MEDLINE for "Hartnup Disease"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Brain Diseases, Metabolic, Inborn 
                      Amino Acid Transport Disorders, Inborn 
                  Brain Diseases, Metabolic
                      Brain Diseases, Metabolic, Inborn 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Renal Tubular Transport, Inborn Errors
                          Renal Aminoacidurias 
                      Brain Diseases, Metabolic, Inborn 
                      Amino Acid Transport Disorders, Inborn 
      Diseases
          Female Urogenital Diseases and Pregnancy Complications
              Female Urogenital Diseases
                  Urologic Diseases
                      Kidney Diseases
                          Renal Tubular Transport, Inborn Errors
                              Renal Aminoacidurias 
      Diseases
          Male Urogenital Diseases
              Urologic Diseases
                  Kidney Diseases
                      Renal Tubular Transport, Inborn Errors
                          Renal Aminoacidurias 
      Diseases
          Nervous System Diseases
              Central Nervous System Diseases
                  Brain Diseases
                      Brain Diseases, Metabolic
                          Brain Diseases, Metabolic, Inborn 

MeSH 2010 © U.S. National Library of Medicine®.

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