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In Utero Central Nervous System Damage in Pyruvate Dehydrogenase Deficiency
Kirk A. Aleck, MD;
Allen M. Kaplan, MD;
W. Geoffrey Sherwood, MD;
Brian H. Robinson, PhD
Arch Neurol. 1988;45(9):987-989.
Abstract
• Pyruvate dehydrogenase deficiency is among the most common causes of congenital lactic acidosis. We describe siblings with congenital lactic acidosis due to a deficiency of pyruvate dehydrogenase complex. The findings of computed tomography and pathologic studies suggest that central nervous system damage had occurred in utero. These observations have implications for treatment and outcome in patients with enzymatic defects causing congenital lactic acidosis.
Author Affiliations
From the Departments of Pediatrics (Dr Aleck) and Pediatric Neurology (Dr Kaplan), Phoenix Children's Hospital, and the Department of Pediatrics and Biochemistry, The Hospital for Sick Children, Toronto (Drs Sherwood and Robinson). Dr Aleck is now with the Vivigen Laboratories, Santa Fe, NM.
Footnotes
Accepted for publication Feb 15, 1988.
Reprint requests to Department of Pediatric Neurology, Phoenix Children's Hospital, 909 E Brill St, Phoenix, AZ 85006 (Dr Kaplan).
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