Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-04

AUTHORS

Josef Weglage, Michael Pietsch, Reinhold Feldmann, Hans-Georg Koch, Johannes Zschocke, Georg Hoffmann, Anja Muntau-Heger, Jonas Denecke, Per Guldberg, Flemming Güttler, Harald Möller, Udo Wendel, Kurt Ullrich, Erik Harms

ABSTRACT

ABSTRACT There is international consensus that patients with phenylalanine (Phe) levels <360 microM on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 microM do. Clinical outcome of patients showing Phe levels between 360 and 600 microM in serum on a free nutrition has so far only been assessed in a small number of cases. Therefore, different recommendations exist for patients with mild hyperphenylalaninemia. We investigated in a nationwide study 31 adolescent and adult patients who persistently displayed serum Phe levels between 360 and 600 microM on a normal nutrition with a corresponding genotype. Because of limited accuracy of measurements, Phe levels should be looked on as an approximation, but not as an absolute limit in every instance. In addition to serum Phe levels, the assessment program consisted of comprehensive psychological testing, magnetic resonance imaging of the head, (1)H magnetic resonance spectroscopy, and genotyping. We found a normal intellectual (intelligence quotient, 103 +/- 15; range, 79-138) and educational (school performance and job career) outcome in these subjects as compared with healthy control subjects (intelligence quotient, 104 +/- 11; range, 80-135). Magnetic resonance imaging revealed no changes of cerebral white matter in any patient, and (1)H magnetic resonance spectroscopy revealed brain Phe levels below the limit of detection (<200 microM). In the absence of any demonstrable effect, dietary treatment is unlikely to be of value in patients with mild hyperphenylalaninemia and serum Phe levels <600 microM on a free nutrition, and should no longer be recommended. Because of a possible late-onset phenylketonuria, Phe levels of untreated patients should be monitored carefully at least during the first year of life. Nevertheless, problems of maternal phenylketonuria should still be taken into account. More... »

PAGES

pr200183

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015

DOI

http://dx.doi.org/10.1203/00006450-200104000-00015

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044108474

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11264437


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1203/00006450-200104000-00015'


 

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