Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
Orphanet journal of rare diseases - 16 Jul 2014
Cavicchi Catia, Donati Maria, Parini Rossella, Rigoldi Miriam, Bernardi Mauro, Orfei Francesca, Gentiloni Silveri Nicolò, Colasante Aniello, Funghini Silvia, Catarzi Serena, Pasquini Elisabetta, la Marca Giancarlo, Mooney Sean, Guerrini Renzo, Morrone Amelia
Abstract excerpt
BACKGROUND: X-linked Ornithine Transcarbamylase deficiency (OTCD) is often unrecognized in adults, as clinical manifestations are non-specific, often episodic and unmasked by precipitants, and laboratory findings can be normal outside the acute phase. It may thus be associated with significant mortality if not promptly recognized and treated. The aim of this study was to provide clues for recognition of OTCD in...
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