2-Hydroxyglutaric Aciduria
Pathogenesis (Mitochondrial Disorder)
- Mitochondrial abnormalities with shortage of energy for cellular functioning, resulting in cell death in high energy utilizing organs, especially the brain.
Clinical
- Onset: Infancy (or Early Childhood)
- Neurological Manifestations: Cerebral Cortical (Cognitive Delay), Cerebellar (Ataxia), Seizures, Motor (Hypotonia, Gait).
- Systemic Manifestations: Cardiomyopathy
- Survival: Infancy or early childhood
Genetics
- Multiple Gene Mutations all causing mitchondrial abnormalities.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov