Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth.

Progress in pediatric liver transplantation--the Birmingham experience.

This report describes the evolution of the Birmingham, UK experience with pediatric liver transplantation from 1983 to present. Two hundred liver grafts were placed in 168 children less than 17 years of age. The current survival rate exceeds 80%.

Emergency transjugular intrahepatic portosystemic shunt prior to liver transplantation.

Transjugular intrahepatic portosystemic shunt (TIPSS) is a new development in the management of severe variceal haemorrhage which has been established in adult patients. We have successfully adapted this technique for children and describe our initial experience in the case of a 9-year-old boy who presented with acute and chronic liver failure and uncontrollable life-threatening bleeding from oesophageal and gastric varices, despite intensive medical management including sclerotherapy. A 10-mm TIPSS was successfully placed with immediate reduction in portal pressure and cessation of variceal bleeding.

Metabolism of paracetamol in children with chronic liver disease.

Objective: To study the metabolism of single doses of paracetamol in paediatric patients with chronic liver disease admitted to a hospital liver disease clinic.

Results: Thirteen paediatric patients, aged 7 months to 12 years, with chronic liver disease of varying severity were studied. In these children, paracetamol elimination half-life was negatively correlated with serum albumin and positively with prothrombin time, as previously reported in adults with liver disease.

Nutritional care and candidates for small bowel transplantation.

Twenty two children were evaluated for small bowel transplantation between 1989 and 1994. Eight were unfit for transplantation and died within three months; a raised plasma bilirubin concentration (> 200 mumol/l) predicted death from liver failure within six months (p = 0.0001).

Assay of paracetamol and its metabolites in urine, plasma and saliva of children with chronic liver disease.

A high-performance liquid chromatographic (HPLC) assay of paracetamol and its metabolites is described. The method for quantifying the metabolism of paracetamol in children with chronic liver disease and the good correlation between plasma and salivary concentrations of paracetamol is demonstrated. Despite an increasing bias between the two methods with increasing concentration of paracetamol, it is concluded that salivary assay is satisfactory for characterising paracetamol pharmacokinetics in the group of patients studied.

The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.

The urinary excretion of metabolites of orally administered phenylpropionic acid (PPA) in 72 children, aged 2 days to 16 years, thought to be at-risk of medium acyl CoA dehydrogenase deficiency has been studied. Forty had presented as Reye Syndrome, 9 as a Reye-like syndrome and 24 were sibs of decreased RS, sibs of RLS cases or sibs of infants who had died suddenly and without explanation where an autopsy revealed the presence of very heavy fatty infiltration of the liver. These studies demonstrated that PPA metabolites are maximally excreted during the 3 hours following the oral load and that this urine collection should be diagnostic.