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encephalopathy due to hydroxykynureninuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0009372

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. [ Orphanet:79155 ]

Synonyms: Xanthurenic aciduria kynureninase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:72945002 (MONDO:equivalentTo)
  • icd11.foundation:1145853843 (MONDO:equivalentTo)
  • MEDGEN:78681 (MONDO:equivalentTo)
  • OMIM:236800 (Orphanet:79155/e)
  • DOID:0112257 (MONDO:equivalentTo)
  • MESH:C536081 (MONDO:equivalentTo)
  • GARD:10039 (MONDO:GARD)
  • ICD9:270.2 (MONDO:relatedTo)
  • UMLS:C0268474 (MONDO:equivalentTo)
  • Orphanet:79155 (OMIM:236800)
Subsets

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, nord_rare, matrix_included, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_metabolic_disease

exactMatch

http://identifiers.org/mesh/C536081

https://omim.org/entry/236800

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1145853843

http://identifiers.org/snomedct/72945002

http://purl.obolibrary.org/obo/DOID_0112257

http://www.orpha.net/ORDO/Orphanet_79155

http://identifiers.org/medgen/78681

http://linkedlifedata.com/resource/umls/id/C0268474

has related synonym

kynureninase deficiency, partial

hydroxykynureninuria

id

MONDO:0009372