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Hartnup Disease

Abstract
Amino acids are building blocks for protein. There are three types of amino acids based on the polarity of the side chain. It includes acidic, basic, and neutral amino acids. Hartnup disease is an autosomal recessive inherited nutritional disorder due to decreased absorption of neutral amino acids from the gut and kidney. It has a wide range of clinical spectrum including neutral aminoaciduria, indicanuria, photosensitive pellagra like skin rash, cerebellar ataxia, anxiety, depression, mild intellectual disability.[1] The clinical symptoms occur intermittently and are influenced by environmental factors, season, stress, and malnutrition.[2] Some patients remain asymptomatic and are diagnosed through routine screening.[3][4]

Publisher

StatPearls Publishing
Treasure Island (FL)

Language

eng

PubMed ID

32644502

Citation

Hashmi MS, Gupta V: Hartnup Disease. StatPearls. StatPearls Publishing, 2020, Treasure Island (FL).
Hashmi MS, Gupta V. Hartnup Disease. StatPearls. StatPearls Publishing; 2020.
Hashmi MS & Gupta V. (2020). Hartnup Disease. In StatPearls. Treasure Island (FL): StatPearls Publishing
Hashmi MS, Gupta V. Hartnup Disease. StatPearls. Treasure Island (FL): StatPearls Publishing; 2020.
* Article titles in AMA citation format should be in sentence-case
TY - CHAP T1 - Hartnup Disease BT - StatPearls A1 - Hashmi,Mydah S., AU - Gupta,Vikas, Y1 - 2020/01// PY - 2020/7/10/pubmed PY - 2020/7/10/medline PY - 2020/7/10/entrez N2 - Amino acids are building blocks for protein. There are three types of amino acids based on the polarity of the side chain. It includes acidic, basic, and neutral amino acids. Hartnup disease is an autosomal recessive inherited nutritional disorder due to decreased absorption of neutral amino acids from the gut and kidney. It has a wide range of clinical spectrum including neutral aminoaciduria, indicanuria, photosensitive pellagra like skin rash, cerebellar ataxia, anxiety, depression, mild intellectual disability.[1] The clinical symptoms occur intermittently and are influenced by environmental factors, season, stress, and malnutrition.[2] Some patients remain asymptomatic and are diagnosed through routine screening.[3][4] PB - StatPearls Publishing CY - Treasure Island (FL) UR - https://www.unboundmedicine.com/medline/citation/32644502/StatPearls:_Hartnup_Disease L2 - https://www.ncbi.nlm.nih.gov/books/NBK559076 DB - PRIME DP - Unbound Medicine ER -
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