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Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening
K B Leydiker1, J A Neidich, F Lorey
1Division of Metabolic Disorders, CHOC Children's, 455 S. Main St., Orange, CA 92868, USA.
Molecular Genetics and Metabolism
|March 1, 2011
Summary
Newborn screening identifies medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in infants. This screening also revealed undiagnosed MCADD in two mothers, highlighting the need for maternal testing when infants have low free carnitine.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) historically presented with sudden death.
- Expanded newborn screening (NBS) using tandem mass spectrometry enables early detection and treatment of MCADD in infants.
- NBS can uncover previously undiagnosed inborn errors of metabolism in mothers.
Observation:
- Two mothers were diagnosed with MCADD after their infants were identified with low free carnitine via NBS.
- Neither mother had a history of metabolic decompensation or symptoms typical of fatty acid oxidation disorders.
- One mother reported prior symptoms of fasting intolerance.
Findings:
- Low free carnitine in newborns can indicate undiagnosed maternal MCADD.
- Confirmatory testing for mothers of infants with low free carnitine is crucial.
- Urine organic acid analysis and acylcarnitine profiling are vital components of maternal confirmatory testing.
Implications:
- Early detection of MCADD in infants prevents life-threatening metabolic crises.
- Maternal MCADD can be identified through infant screening, preventing potential future complications.
- Comprehensive diagnostic algorithms for maternal metabolic disorders should be implemented when infants present with specific biochemical abnormalities.
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