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ENHydroxykynureninuria (HYXKY)
Alias:
Xanthurenic Aciduria
Kynureninase Deficiency
Kynureninase Deficiency, Partial
Partial Kynureninase Deficiency
Hyxky
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Hydroxykynureninuria, also known as xanthurenic aciduria, is related to vertebral, cardiac, renal, and limb defects syndrome 2 and pellagra. An important gene associated with Hydroxykynureninuria is KYNU (Kynureninase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and superpathway of tryptophan utilization. Affiliated tissues include skin and kidney, and related phenotypes are encephalopathy and abnormal circulating tryptophan concentration
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