has material basis in germline mutation in KYNU encephalopathy due to hydroxykynureninuria https://www.malacards.org/card/hydroxykynureninuria kynureninase deficiency Xanthurenic aciduria MEDGEN:78681 Orphanet:79155 DOID:0112257 icd11.foundation:1145853843 ICD9:270.2 UMLS:C0268474 GARD:0010039 OMIM:236800 Encephalopathy due to hydroxykynureninuria is characterized 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. MONDO:0009372 SCTID:72945002 MESH:C536081 inborn disorder of tryptophan metabolism