43 top medical experts on Hartnup Disease across 7 countries and 2 U.S. states, including 5 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Metabolic Brain Diseases (1,358), Renal Aminoacidurias (82), Inborn Amino Acid Transport Disorders (52).
  4. Synonyms: Neutral Amino Acid Transport Disorder,  Neutral Amino Acid Transport Disorder,  Neutral Amino Acid Transport Disorder


  

        

                    


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