3- Methylcrotonyl-coa Carboxylase Deficiency: Biochemical and Molecular Studies in 36 Patients (original) (raw)

This study characterizes five pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency (PDHc), focusing on their clinical manifestations, diagnostic challenges, and treatment responses. Key findings include a mean diagnosis age of 37 months, neurological symptoms such as developmental delays and behavioral changes, and an average enzymatic activity of 30.5% for PDHc. The research highlights the importance of recognizing early-onset neurological signs associated with PDHc and suggests further investigation of this rare metabolic disorder.