Lack of genotype-phenotype correlation in succinic semialdehyde dehydrogenase deficiency

Takeaway

  • Seven novel genetic variants were identified in a small cohort of 24 people with succinic semialdehyde dehydrogenase deficiency (SSADHD). There was no overall genotype-phenotype correlation.

Why this matters

    SSADHD is a rare, underdiagnosed disease with highly variable neurological manifestations. Further studies are required to understand the relationship between genotype and phenotype.