Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder

Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of l -lysine, l -hydroxylys...

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Veröffentlicht in:	Neurogenetics 2020-07, Vol.21 (3), p.179-186
Hauptverfasser:	Gelener, Pınar, Severino, Mariasavina, Diker, Sevda, Teralı, Kerem, Tuncel, Gulten, Tuzlalı, Hatice, Manara, Elena, Paolacci, Stefano, Bertelli, Matteo, Ergoren, Mahmut Cerkez
Format:	Artikel
Sprache:	eng
Schlagworte:	Aciduria Biomedical and Life Sciences Biomedicine Cognition Dehydrogenases Encephalopathy Genetic screening Glutaryl-CoA dehydrogenase Headache Human Genetics Hypoplasia Lysine Magnetic resonance imaging Molecular Medicine Movement disorders Neostriatum Neurodegeneration Neuroimaging Neurological diseases Neurosciences Nodules Original Article Substantia alba Tryptophan
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