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Hydroxykynureninuria

MedGen UID:
78681
•Concept ID:
C0268474
•
Disease or Syndrome
Synonyms: Encephalopathy due to hydroxykynureninuria; Kynureninase deficiency; Xanthurenic aciduria
SNOMED CT: Kynureninase deficiency (72945002); Xanthurenic aciduria (17820009); Hydroxykynureninuria (33116002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): KYNU (2q22.2)
 
Monarch Initiative: MONDO:0009372
OMIM®: 236800
Orphanet: ORPHA79155

Definition

Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) (Christensen et al., 2007). [from OMIM]

Clinical features

From HPO
Elevated urinary xanthurenic acid level
MedGen UID:
1052485
•Concept ID:
CN376630
•
Finding
The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
See: Feature record | Search on this feature
Elevated urinary 3-hydroxykynurenine level
MedGen UID:
1053365
•Concept ID:
CN376775
•
Finding
The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal.
See: Feature record | Search on this feature
Jaundice
MedGen UID:
43987
•Concept ID:
C0022346
•
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
See: Feature record | Search on this feature
Vomiting
MedGen UID:
12124
•Concept ID:
C0042963
•
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHydroxykynureninuria
Follow this link to review classifications for Hydroxykynureninuria in Orphanet.

Recent clinical studies

Diagnosis

Hydroxykynureninuria, a case report.
Jothi A, Seetaram U, Reddy MV, Reddi OS, Reddy PP
Indian J Pediatr 1982 Jul-Aug;49(399):629-30. doi: 10.1007/BF02834571. PMID: 7152601

Therapy

Hydroxykynureninuria.
Komrower GM, Westall R
Am J Dis Child 1967 Jan;113(1):77-80. doi: 10.1001/archpedi.1967.02090160127016. PMID: 6015911

Clinical prediction guides

Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh.
Swarna M, Jyothy A, Usha Rani P, Reddy PP
Biochem Genet 2004 Apr;42(3-4):85-98. doi: 10.1023/b:bigi.0000020464.05335.79. PMID: 15168722

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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