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Encephalopathy due to hydroxykynureninuria - CISMeF
Encephalopathy due to hydroxykynureninuriaICD-11 More detail
Preferred Label : Encephalopathy due to hydroxykynureninuria;
ICD-11 definition : Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation
and nonprogressive encephalopathy associated with urinary excretion of large amounts
of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in
less than 30 patients. Other manifestations may include muscular hypertonia, headaches
and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait.
It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.;
Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation
and nonprogressive encephalopathy associated with urinary excretion of large amounts
of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in
less than 30 patients. Other manifestations may include muscular hypertonia, headaches
and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait.
It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.
Currated CISMeF NLP mapping