Mitochondrial complex II deficiency:
Organs with a high energy demand are affected and patients present with:
• Dialatative/hypertrophic cardiomyopathy
• Optic atrophy/ophthalmoplegia
• Leigh syndrome
• Ataxia
• Leukoencephalopathy
• Lactic acidosis
• Seizures
• Cognitive impairment
• Muscle weakness
• Exercise intolerance
The diagnosis of SDHA-related syndrome is confirmed by performing genetic testing in an affected individual, which enables the detection of a disease-causing changes in the SDHA gene.
Tumorigenesis:
• Paraganglioma
• Pheochromocytoma
• Gastrointestinal stromal tumour
The diagnosis of SDHA-related tumour is confirmed by performing genetic testing in an affected individual, which enables the detection of a disease-causing change in the SDHA gene.
SDHA