Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance

K Badizadegan, AR Perez-Atayde - Hepatology, 1997 - journals.lww.com
Metabolic disorders of ureagenesis can cause a Reye-like syndrome with potentially fatal
hyperammonemia in children. A mechanistically heterogeneous subset of these disorders
shares the biochemical end-result of impaired mitochondrial citrulline production. These
include deficiencies of the mitochondrial enzymes, ornithine transcarbamylase (OTC) and
carbamyl-phosphate synthase (CPS), as well as dibasic aminoacidurias hyperammonemia-
hyperornithinemia-homocitrullinuria (HHH) and lysinuric protein intolerance (LPI). In this …