Chinese Journal of Practical Pediatrics 2019;34(01):22-25

doi:10.19538/j.ek2019010608

Progress in diagnosis and treatment of medium chain acyl coenzyme A dehydrogenase deficiency

Hui ZOU 1 ; Yu-lin LI 1 ; Li-ping TIAN 1

Affiliations

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Keywords

medium chain acyl-CoA dehydrogenase deficiency; metabolism; decompensation

Country

China

Language

Chinese

Abstract

Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.