P026: Neurobehavioral profiles in primary mitochondrial disorders: Overview of select cases from a single center multi-disciplinary mitochondrial disorders program
Abstract
Primary mitochondrial disorders (PMDs) are genetically and clinically heterogeneous conditions that present with multisystem involvement with significant neurological burden. Patients often experience seizures, lactic acidosis, stroke-like episodes, dystonia, and developmental regression, along with chronic comorbidities such as feeding difficulties, respiratory insufficiency, as well as vision and hearing impairment. Comprehensive care models that integrate metabolic, neurological, psychological, and social support have been established by organizations such as the United Mitochondrial Disease Foundation and the Mitochondrial Care Network.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Mitochondrial Function and Pathology
Genetic Neurodegenerative Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103517–103517
- Publication date
- 1 January 2026
- Language
- EN