We have a male child, born yesterday (20/1/08) whose male sibling died
(so I am informed) of Pyruvate Dehydrogenase Deficiency in 1998.
Sister born more recently, is unaffected (perhaps unsurprisingly as it's
X-linked).
Does anyone known where we can get an assay done to determine the status
of this infant.
Any help appreciated.
Michael
Swindon & Marlborough NHS Trust
Great Western Hospital
Marlborough Road
Swindon
SN3 6BB
Tel 01793 60 40 20
http://www.swindon-marlborough.nhs.uk
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