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

[pyruvate dehydrogenase deficiency]

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH ) deficiency (OMIM 312170 ) due to previously undescribed mutations (Pro 250 T hr , Arg 88 Cys ) in the gene for the E 1 alpha subunit (PDHA 1 ). 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 .