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Article

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Molecular genetics and metabolism - 1 Mar 2010

Arnold Georgianne L, Saavedra-Matiz Carlos A, Galvin-Parton Patricia A, Erbe Richard, Devincentis Ellen, Kronn David, Mofidi Shideh, Wasserstein Melissa, Pellegrino Joan E, Levy Paul A, Adams Darius J, Nichols Matthew, Caggana Michele

Abstract excerpt

INTRODUCTION: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. Affected patients have impaired ability to break down medium chain fatty acids during fasting, and typically present in the early years of life with hypoketotic hypoglycemia, Reye syndrome-like symptoms, brain damage or death. The development of newborn screening (NBS) for MCAD deficiency has...

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PMID: 20036593
DOI: 10.1016/j.ymgme.2009.10.188

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