Genetic basis of hyperlysinemia

Houten S. M. , te Brinke H., Denis S., Ruiter J. P. N. , Knegt A. C. , de Klerk J. B. C. , ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.8, 2013 (SCI-Expanded) identifier identifier identifier


Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding alpha-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.