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encephalopathy due to hydroxykynureninuria

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non-progressive encephalopathy, and muscular hypertonia.
Mondo Term and Equivalent IDs
MONDO:0009372:  encephalopathy due to hydroxykynureninuria
GARD:0010039: 
MESH:C536081: 
Orphanet:79155: 
SCTID:72945002: 
UMLS:C0268474: