Acyl-CoA Dehydrogenase Deficiency and RS

Abstract

A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

Keywords

• medium-chain acyl-coa dehyrogenase
• hypotonia
• bilateral spikes