Linked Life Data

3684400

Source:http://linkedlifedata.com/resource/pubmed/id/3684400

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1988-1-7
pubmed:abstractText
Immunochemical studies of the enzyme defect in the first reported child with acute hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency are described. This enzyme activity was markedly decreased (approximately 2% of the normal control level) in the proband, a 3-year-old boy, and intermediately decreased (23% to 57%) in both parents, in both grandfathers, and in a sister, but it was normal in two siblings and in both grandmothers. In contrast to the profound decrease in delta-aminolevulinic acid dehydratase activity, the immunoreactive enzyme protein in the child's erythrocytes was decreased to only 28% of the normal control level, suggesting the presence of positive cross-reactive material. In other family members with abnormally decreased delta-aminolevulinic acid dehydratase activity, and in the proband immediately after transfusion of normal RBCs, the positive cross-reactive material was not detectable. The immunochemical and enzyme activity data support the idea that delta-aminolevulinic acid dehydratase deficiency in this porphyric child is associated with the production of a catalytically abnormal enzyme protein.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0031-4005
pubmed:author
pubmed:issnType
Print
pubmed:volume
80
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
880-5
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
Enzymatic defect in a child with hereditary hepatic porphyria due to homozygous delta-aminolevulinic acid dehydratase deficiency: immunochemical studies.
pubmed:affiliation
Rockefeller University Hospital, New York, NY 10021-6399.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't