Novembre 2016 - Volume XXXV - numero 9
Pagine elettroniche
Unità di Patologia e Terapia Intensiva Neonatale, Ospedale Santa Maria della Misericordia, Perugia
Indirizzo per corrispondenza: scattoniraffaella@gmail.com
Key words: Peroxisomes, Zellweger spectrum, VLCFA, Hypotonia, Seizures
The paper describes a case of a newborn suffering from severe hypotonia and drug-resistant seizures, who was diagnosed with a “Zellweger spectrum” disease by means of biochemical and enzymatic tests. The “Zellweger spectrum” disorders are a group of diseases including Zellweger syndrome, Neonatal Adrenoleukodystrophy and Refsum disease which are considered as a “clinical and biochemical continuum”, characterized by the loss of peroxisomal functions, caused by molecular defects in genes coding for peroxins, proteins required for peroxisome biogenesis.
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