Details of Disease

General Information of Disease (ID: DISYCGPA)

• Disease Name: Encephalopathy due to hydroxykynureninuria
• Synonyms: hydroxykynureninuria; kynureninase deficiency, partial; Xanthurenic aciduria; kynureninase deficiency
• Definition: 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.
• Disease Hierarchy:
  DISERPI1: Inborn disorder of tryptophan metabolism
  DISYCGPA: Encephalopathy due to hydroxykynureninuria
• Disease Identifiers:
  MONDO ID: MONDO_0009372
  MESH ID: C536081
  UMLS CUI: C0268474
  OMIM ID: 236800
  MedGen ID: 78681
  Orphanet ID: 79155
  SNOMED CT ID: 17820009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KYNU	TTWQM3J	Strong	Autosomal recessive	[1]
KYNU	TTWQM3J	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KYNU	OTINL2RE	Strong	Autosomal recessive	[1]

References

• [1] Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. J Inherit Metab Dis. 2007 Apr;30(2):248-55. doi: 10.1007/s10545-007-0396-2. Epub 2007 Mar 1.
• [2] NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.