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Summary
HYPERKYNURENINURIA
XANTHURENIC ACIDURIA
236800
OMIM = Online Medalian Inheritance of Men
79155
2q22.2
rare
autosomal recessive
mutation in the KYNU gene
symptoms
coma
early death
encephalopathy
hearing defect, deafness
hypertonia, spasticity
hypotension
mental retardation
metabolic acidosis
motor retardation
Organic acids, urine
psychomotor retardation
tachykardia
tubulopathy
unusual odor / odour
laboratory finding
Protein 50.0080.00normal/increasedurine
Kynurenine70.00220.00 increasedurineno data
3-Hydroxykynurenine71.00213.00 increasedurineno data
Xanthurenic acid increasedurine
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Lee NCet al.Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiencyJ Inher Met Dis290551-5552006
Kondo Tet al.Is 2-propyl-4-pentenoic acid, a hepatotoxic metabolite of valproate, reasonable for valproate-induced hyperammonemia?Epilepsia333550-5541992