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HYPERKYNURENINURIA

HYPERKYNURENINURIA
XANTHURENIC ACIDURIA
236800
OMIM = Online Mendelian Inheritance of Men
79155
Kynureninase
3.7.1.3
2q22.2
E70.8
rare
autosomal recessive
mutation in the KYNU gene
Laboratory findings3-Hydroxykynurenine inc (urine)
    DL-Kynurenin inc (urine)
    Protein normal/inc (urine)
    Xanthurenic acid inc (urine)
Symptomsunusual 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