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Pediatrics. 2006 Dec;118(6):2555-6.

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.

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  • 1Children's Hospital of Philadelphia, Section of Biochemical Genetics, 34th and Civic Center Boulevard, Main Building #9S20, Philadelphia, PA 19104, USA. ficicioglu@email.chop.edu

Abstract

We report a 19-month-old girl with a 3-methylcrotonyl-coenzyme A carboxylase deficiency that was detected through newborn screening. She was treated for the first 12 months but was lost to follow-up after the initial year. Her parents did not comply with the recommendations for management during periods of illness or for regular medical evaluations. During an acute illness, she presented with severe acidosis, hypoglycemia, and a low plasma carnitine level at 19 months of age. This report highlights the importance of more extensive follow-up plans to improve parental compliance.

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