ABSTRACT
Developmental delay, seizures, frontal bossing and dysmorphic features, macrocephaly, muscular hypotonia, hepatic steatosis and fibrosis, recurrent hypoglycemia, hyperinsulinism, failure to thrive and short stature, congenital cardiac anomalies, megaloblastic anemia, intermittent hypermethioninemia, increased S-adenosylmethionine and S-adenosylhomocysteine, and mutations in the ADK gene.
