Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.

Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit.

Long-term survival of children with cerebral palsy in Okinawa, Japan.

Aim: The aim of this study was to describe the survival prognosis of children with cerebral palsy (CP) in Okinawa, Japan.

Method: A cohort study was conducted on all children with CP born between 1988 and 2005 in Okinawa, Japan. Survival proportions were determined with a life table and Kaplan-Meier survival curves were plotted.

Mild trigonocephaly with clinical symptoms: analysis of surgical results in 65 patients.

Introduction: It has been believed that isolated, mild trigonocephaly rarely presents with clinical symptoms.

Patients And Methods: We diagnosed and operated on 65 patients with mild trigonocephaly and developmental delay up to July 2000. There were 47 boys and 18 girls in our series.