Linked Life Data

20101413

Source:http://linkedlifedata.com/resource/pubmed/id/20101413

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-4-16
pubmed:abstractText
Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J. In the patients described here, brown round crystals were found in their urinary sediment. Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*. We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency. Genetic screening for APRT*Q0 and APRT*J of family members is effective for early diagnosis and early treatment for family members.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1432-198X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1173-6
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
pubmed:affiliation
Department of Pediatrics, Faculty of Medicine, Kagawa University, Mikicho 1750-1, Kitagun, Kagawa 761-0793, Japan. iwaki@med.kagawa-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports