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中文Hartnup Disorder (HND)
Alias:
Hartnup Disease
Neutral 1 Amino Acid Transport Defect
Neutral Amino Acid Transport Defect
Aminoaciduria, Hartnup Type
Hnd
Disorder of Neutral Amino Acid Transport
Deficiency of Tryptophan Oxygenase
Hartnup's Disease
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Hartnup Disorder, also known as hartnup disease, is related to aminoaciduria and cystinuria, and has symptoms including seizures. An important gene associated with Hartnup Disorder is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways/superpathways are Infectious disease and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include Kidney, skin and cerebellum, and related phenotypes are hyperreflexia and eeg abnormality.
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