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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, m...

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Main Authors: Cannet, Claire (Author) , Pilotto, Andrea (Author) , Rocha, Júlio César (Author) , Schäfer, Hartmut (Author) , Spraul, Manfred (Author) , Berg, Daniela (Author) , Nawroth, Peter Paul (Author) , Kasperk, Christian (Author) , Gramer, Gwendolyn (Author) , Haas, Dorothea (Author) , Piel, David (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Freisinger, Peter (Author) , Trefz, Friedrich K. (Author)
Format: Article (Journal)
Language:English
Published: 27 February 2020
In: Orphanet journal of rare diseases
Year: 2020, Volume: 15, Pages: 1-7
ISSN:1750-1172
DOI:10.1186/s13023-020-1329-5
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-020-1329-5
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Author Notes:Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Peter Nawroth, Christian Kasperk, Gwendolyn Gramer, Dorothea Haas, David Piel, Stefan Kölker, Georg Hoffmann, Peter Freisinger and Friedrich Trefz
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Summary:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor deficits, eczematous rash, autism, seizures, and developmental problems. There is a controversial discussion of whether patients with PKU have an additional risk for atherosclerosis due to interference of Phe with cholesterol synthesis and LDL-cholesterol regulation. Since cholesterol also plays a role in membrane structure and myelination, better insight into the clinical significance of the impact of Phe on lipoprotein metabolism is desirable. In 22 treated PKU patients (mean age 38.7 years) and 14 healthy controls (mean age 35.2 years), we investigated plasma with NMR spectroscopy and quantified 105 lipoprotein parameters (including lipoprotein subclasses) and 24 low molecular weight parameters. Analysis was performed on a 600 MHz Bruker AVANCE IVDr spectrometer as previously described.
Item Description:Gesehen am 04.05.2020
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-020-1329-5

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