Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1976-2-13
pubmed:abstractText
The phenylalanine hydroxylase assay was modified by using biopterin, lysolecithin, and dithioerythritol. Liver tissue was obtained by percutaneous needle biopsies in patients with phenylketonuria (PKU) and hyperphenylalaninemia. The use of the naturally occurring cofactor biopterin is essential to measure low enzyme activities. Thirteen of 14 assay specimens in which no activity was detectable correlated with the clinical picture of classic PKU. Twelve assay specimens showed a residual activity up to 6% of normal. This group comprises patients with classic PKU and with so-called hyperphenylalaninemia. Four specimens ranged between 8.7 and 34.5% of the normal values. Patients in this group have developed normally so far without dietary treatment. It seems that patients with residual activity tolerate more phenylalanine in the diet than patients with no detectable activity. One infant with biochemical symptoms of classic PKU was found to have a normal phenylalanine hydroxylase activity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0031-3998
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
899-903
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1975
pubmed:articleTitle
Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.
pubmed:publicationType
Journal Article, Comparative Study