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