| HYPERKYNURENINURIA | |
| XANTHURENIC ACIDURIA | |
|
236800
OMIM = Online Mendelian Inheritance of Men | |
|
79155 | |
| Kynureninase | |
| 3.7.1.3 | |
| rare autosomal recessive mutation in the KYNU gene | |
| Laboratory findings | 3-Hydroxykynurenine inc (urine) DL-Kynurenin inc (urine) Protein normal/inc (urine) Xanthurenic acid inc (urine) |
| Symptoms | unusual odor / odour coma early death encephalopathy hearing defect, deafness hypertonia, spasticity hypotension mental retardation metabolic acidosis motor retardation onset, childhood onset, infancy Organic acids, urine psychomotor retardation tachykardia tubulopathy |