Management

Mitochondrial complex II deficiency:
There is no cure for complex II deficiency, though some cases reported clinical improvement following riboflavin therapy. Patients with complex II deficiency are recommended to be managed in specialised centers for mitochondrial disorders and is directed to the symptoms manifested by the patient. With the exception of the dominantly acting c.1351C>T p.(Arg451Cys) SDHAvariant, all other reported pathogenic SDHAvariants are associated with autosomal recessive inheritance

If the causative SDHA-variant(s) is known, prenatal diagnosis is possible, if requested by the parents.

Tumorigenesis:
Family members of a patient with a heterozygous SDHApathogenic variants are at elevated risk of also developing a SDHA-associated tumour, as the trait is not fully penetrant. Therefore, they should be offered genetic counselling.