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stergaard MD, PhD,
From the Departments of Medicine (Drs. Nguyen and Naviaux) and Pediatrics (Dr. Naviaux), University of California, San Diego, and Mitochondrial and Metabolic Disease Center, San Diego, CA; John F. Kennedy Institute (Dr. stergaard), Glostrup, Denmark; Departments of Genetics and Pediatrics (Dr. Holst Ravn), Rigshospitalet, Copenhagen, Denmark; Department of Paediatrics (Dr. Balslev), Skejby Hospital, Aarhus University Hospital, Denmark; Department of Radiology (Dr. Rubæk Danielsen), University of Copenhagen, Rigshospitalet, Denmark; Pediatric Critical Care Medicine (Dr. Vardag), West Boca Medical Center, Boca Raton, FL; Children’s Hospital NHS Trust (Dr. McKiernan), Liver Unit, Birmingham, UK; and Clinical Chemistry (Dr. Gray), Children’s Hospital, Birmingham, UK.
* To whom correspondence should be addressed. E-mail: naviaux{at}ucsd.edu.
Abstract-- Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
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