Hypertryptophanemia

Hypertryptophanemia
Other namesFamilial hypertryptophanemia[1]
Tryptophan
SpecialtyEndocrinology Edit this on Wikidata

Hypertryptophanemia is a rare autosomal recessive[2] metabolic disorder that results in a massive buildup of the amino acid tryptophan in the blood, with associated symptoms and tryptophanuria (-uria denotes 'in the urine').[3][4]

Elevated levels of tryptophan are also seen in Hartnup disease,[5] a disorder of amino acid transport.[6] However, the increase of tryptophan in that disorder is negligible when compared to that of hypertryptophanemia.[1][5]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 600627
  2. ^ Martin JR, Mellor CS, Fraser FC (April 1995). "Familial hypertryptophanemia in two siblings". Clin. Genet. 47 (4): 180–183. doi:10.1111/j.1399-0004.1995.tb03956.x. PMID 7628119. S2CID 27203561.
  3. ^ Snedden W, Mellor CS, Martin JR (July 1983). "Familial hypertryptophanemia, tryptophanuria and indoleketonuria". Clinica Chimica Acta. 131 (3): 247–256. doi:10.1016/0009-8981(83)90094-3. ISSN 0009-8981. PMID 6883719.
  4. ^ Snedden W, Mellor CS, Martin JR (November 1982). "Hypertryptophanemia and indoleketonuria in two mentally subnormal siblings" (Free full text). The New England Journal of Medicine. 307 (22): 1405. doi:10.1056/NEJM198211253072219. ISSN 0028-4793. PMID 7133092.
  5. ^ a b Online Mendelian Inheritance in Man (OMIM): 234500
  6. ^ Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE (September 2004). "Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19". Nature Genetics. 36 (9): 1003–1007. doi:10.1038/ng1406. PMID 15286788.