Linked Life Data

15461973

Source:http://linkedlifedata.com/resource/pubmed/id/15461973

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2004-10-5
pubmed:abstractText
Phenylketonuria (PKU), the most frequent inborn error of metabolism (1/15,000 live births), is an autosomal recessive condition caused by phenylalanine hydroxylase deficiency. Despite early and strict dietary control, some PKU children still exhibit behavioral and cognitive difficulties suggestive of a partly prenatal brain injury. The reported variability between the cognitive and clinical phenotypes within the same family raises the question of modifying genes in PKU. We suggest here that monoamine oxidase type B, MAOB, an enzyme degrading phenylethylamine, a very toxic metabolite of phenylalanine, could act as a modifying gene since a variant enzymatic activity of MAOB in PKU patients with similar phenylalanine levels would result in different phenylethylamine levels and different clinical outcomes. Finally the report of low MAOB, and consequently expectedly high phenylethylamine levels in neonates is consistent with a phenylethylamine-mediated brain injury possibly causing irreversible damages in PKU newborns prior to onset of the low protein diet.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0767-0974
pubmed:author
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
929-32
pubmed:dateRevised
2007-4-13
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[MAOB: a modifier gene in phenylketonuria?].
pubmed:affiliation
Inserm U.393, Handicaps génétiques de l'enfant, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris 15, France. acghozlan@yahoo.fr
pubmed:publicationType
Journal Article, English Abstract, Review