Hypertryptophanemia

Definition:

Hypertryptophanemia (HYPTRP) is a rare inherited metabolic disorder caused by congenital defects of tryptophan metabolism. Tryptophan is a precursor to the neurotransmitters serotonin and melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported.

References:

[1]. Patrick Ferreira, et al. Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. Mol Genet Metab. 2017 Apr;120(4):317-324. [Content Brief]

[2]. W Snedden, et al. Familial hypertryptophanemia, tryptophanuria and indoleketonuria. Clin Chim Acta. 1983 Jul 15;131(3):247-56. [Content Brief]

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