Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

TY - JOUR

T1 - Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples

AU - Morton, D. Holmes

AU - Kelley, Richard I.

N1 - Funding Information: Medium-chain acyl-coenzyme A dehydrogenase deficiency is a recently described autosomal recessive inborn error of mitochondrial fatty acid metabolism with several characteristic presentations, including a Reye syndrome-like encephalopathy and sudden infant death syndrome. 1,2 MCADD can be presumptively or definitively diagnosed by several different methods available in a few research laboratories. However, a simple test for MCADD, one adaptable to neonatal screening, would be desirable because of the apparent high prevalence of MCADD, its high morbidity and mortality rates in the unidentified child, and the efficacy of relatively simple therapy for acute episodes of the disorder. We had an unusual opportunity to study medium-chain fatty acid metabolism in a neonate with MCADD whose condition was ascertained at birth after the diagnosis of the same disorder in his 31/2-year-old brother. Because medium-chain acyl-CoA dehydrogenase is required for the oxidation of two medium-chain fatty acids, octanoate and cis-4-decenoate, and because levels of these metabolites are elevated in the plasma of symptom-free older children with Supported in part by grant No. HD-07107 from the National Institutes of Health and by a grant from the Muscular Dystrophy Association. Submitted for publication May 23, 1989; accepted April 4, 1990. Reprint requests: D. Holmes Morton, MD, Clinic for Special Children, Willow Lakes Health Center, 222 Willow Valley Dr., Willow Lakes, PA 17584. 9/22/21431 MCADD,3, 4 we decided to determine the levels of free octanoate and decenoate in plasma and in neonatal filter paper blood samples collected from a neonate and his older sibling.

PY - 1990/9

Y1 - 1990/9

UR - http://www.scopus.com/inward/record.url?scp=0024989097&partnerID=8YFLogxK

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U2 - 10.1016/S0022-3476(05)81091-1

DO - 10.1016/S0022-3476(05)81091-1

M3 - Article

C2 - 2391601

AN - SCOPUS:0024989097

SN - 0022-3476

VL - 117

SP - 439

EP - 442

JO - The Journal of pediatrics

JF - The Journal of pediatrics

IS - 3

ER -