Osamu Sakamoto

TL;DR: Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin, suggesting a novel subtype of phenylAlanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.

TL;DR: The clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) were clarified by retrospective review of symptoms, management and long-term outcome of 75 patients by using questionnaires to paediatricians in charge of the patients.

TL;DR: Three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening were described and DNA analyses of SLC25A13 revealed that there may be a variety of liver diseases related to CTLN2 in children.

TL;DR: The oxidative stress score calculated from these six parameters was significantly higher in patients with serum phenylalanine of 700-800 μmol/l, although the decreases did not correlate significantly with the phenolalanine level.

TL;DR: Molecular analysis on three Japanese patients with FBS found four novel mutations: a splice-site mutation (IVS2−2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E), which suggested that GLUT2 gene defects may be a cause of renal glucosuria.