Linked Life Data

3366132

Source:http://linkedlifedata.com/resource/pubmed/id/3366132

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1988-6-14
pubmed:abstractText
Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
147
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
153-7
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.
pubmed:affiliation
Laboratoire de Biochimie, Faculté Libre de Médecine, Lille, France.
pubmed:publicationType
Journal Article, Case Reports