Linked Life Data

17334708

Source:http://linkedlifedata.com/resource/pubmed/id/17334708

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-3-20
pubmed:abstractText
Massive urinary excretion of xanthurenic acid, 3-hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria, in a young Somali boy suggested kynureninase deficiency. Mutation analysis of KYNU encoding kynureninase of the index case revealed homozygosity for a c.593 A > G substitution leading to a threonine-to-alanine (T198A) shift. A younger brother was found to have a similar excretion pattern and the same genotype. At present, neither of the two boys has symptoms of niacin deficiency. This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1573-2665
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
248-55
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
pubmed:affiliation
Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100, Copenhagen, Denmark. mette.christensen@rh.regionh.dk
pubmed:publicationType
Journal Article, Case Reports