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

Abstract

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.