Hartnup Disorder


Hartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). A deficiency in this enzyme results in accumulation of L-alanine, L-asparagine, L-histidine, indoleacetic acid, L-isoleucine, L-leucine, L-phenylalanine, L-serine, L-threonine, L-tryptophan, L-valine, and L-tyrosine in urine. Symptoms include pellagra, psychosis, ataxia, and mental retardation. Treatment includes nicotinamide.

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References

  1. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 54) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  2. Kraut JA, Sachs G: Hartnup disorder: unraveling the mystery. Trends Pharmacol Sci. 2005 Feb;26(2):53-5. Pubmed