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Scholars Journal of Medical Case Reports | Volume-7 | Issue-01
Very-Long-Chain Acyl-Coenzyme a (CoA) Dehydrogenase Deficiency in Saudi Neonate- Case Report
Eman AlOtaibi, Waad AlOtaibi, Mahmoud Osman, Badi ALEnazi
Published: Jan. 30, 2019 |
183
168
DOI: 10.36347/sjmcr.2019.v07i01.027
Pages: 91-92
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Abstract
Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency is an autosomal recessive disorder of fatty acid B-oxidation with significant variable presentation. The Main presentation are hypoketotic hypoglycemic, hepatomegaly, cardiomyopathy, myopathy and rhabdomyolysis, we present a case report of 2 days old Saudi neonate who presented with non ketotic hypoglycemia, hepatomegaly, high lactic acid level and high creatine kinase. He was diagnosed as very long chain acyl coenzyme A dehydrogenase deficiency based on newborn metabolic screen