Patients all have biallelic pathogenic mutations in the gene. This means they obtained a mutated SUCLA2gene from each of their parents. Therefore the protein encoded by the SUCLA2 gene does not work or works suboptimal. Various pathogenic mutations have been described. Most are so-called missense mutations but also splice site mutations occur as well as deletions. Diagnostic testing done by metabolic doctors should include testing in blood plasma and/or dry blood spots. Relevant tests are: lactate, methylmalonic acid and carnitine profiling (increased C4-dicarboxylic carnitine). Increased values are generally found. These parameters can also be abnormal in urine.
SUCLA2