Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Autor:	Debray, Francois G., Lambert, Marie, Vanasse, Michel, Decarie, Jean-Claude, Cameron, Jessie, Levandovskiy, Valeriy, Robinson, Brian H., Mitchell, Grant A.
Předmět:	PYRUVATES DEHYDROGENASES JUVENILE diseases GUILLAIN-Barre syndrome PERIPHERAL nervous system DIAGNOSIS of deficiency diseases DEFICIENCY diseases DIFFERENTIAL diagnosis MUSCLE weakness DISEASE complications
Zdroj:	European Journal of Pediatrics; Jul2006, Vol. 165 Issue 7, p462-466, 5p, 2 Charts
Abstrakt:	Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barré syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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