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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 E1αsubunit (PDHA1). Taken in context with the literature,these patients suggest that acute weakness initially resembling Guillain-Barrésyndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.
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 E1 alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barrésyndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve functions should be evaluated in PDH-deficient patients.