Ángeles García-Cazorla, MD, PhD is a Spanish pediatric neurologist internationally recognized for her expertise in inherited metabolic disorders with neurological involvement, particularly neurometabolic diseases presenting in childhood. She is based at Hospital Sant Joan de Déu, Barcelona, where she leads clinical and translational programs focused on rare metabolic and neurogenetic conditions.
Dr. García-Cazorla’s work centers on the early diagnosis and management of inborn errors of metabolism affecting the central nervous system, including disorders of energy metabolism, neurotransmitter defects, and treatable neurometabolic encephalopathies. Her research integrates clinical phenotyping, biochemical diagnostics, and molecular genetics, with a strong emphasis on identifying actionable biomarkers and therapeutic targets.
She has authored numerous peer-reviewed publications and is actively involved in European reference networks dedicated to rare neurological diseases. In addition to her clinical and research leadership, she is a frequent invited speaker at international conferences and contributes to advancing precision medicine approaches in pediatric neurology.