Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Investigating persistent hyperferritinaemia without apparent iron overload is challenging. Even when inflammation, cirrhosis, Still's disease, fatty liver and malignancy are excluded, there remains a group of patients with unexplained hyperferritinaemia for whom rare forms of haemochromatosis (ferroportin disease) are a consideration. Preliminary results suggest that abnormal percentage glycosylation of serum ferritin is seen in some cases of genetically determined hyperferritinaemia.

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.

There is a lack of awareness of acutely presenting inborn errors of metabolism in adults, of which the X-linked urea cycle defect ornithine transcarbamylase (OTC) deficiency is an example, many comparatively mild mutations having been identified. In male hemizygotes clinical manifestations and age at presentation vary and depend on the mutation. In female heterozygotes the clinical spectrum depends on the extent to which the abnormal gene is expressed.

Is suboptimal phlebotomy technique impacting on potassium results for primary care?

Background: Pre-analytical problems causing pseudohyperkalaemia have been highlighted previously. These include transit time and temperature effects when sample collection points are geographically widely spread. Similarly, inappropriate phlebotomy technique (in particular, requesting patients to fist clench to facilitate venesection) is a documented cause of pseudohyperkalaemia, but its incidence may be impossible to establish.

Hypokalaemic rhabdomyolysis.

Hypokalaemic rhabdomyolysis is unusual, but the association between hypokalaemia and rhabdomyolysis can be overlooked if intracellular potassium leakage normalizes serum potassium by the time of presentation. This report describes a patient who presented with severe pain due to non-traumatic rhabdomyolysis and was found to have serum potassium of 1.4 mmol/L; magnesium 0.

Conjugated bilirubin measurements in Gilbert's syndrome: method dependence.

Background: Introducing new methodology often requires alteration to reference ranges and may cause inconvenience. Reagent suppliers may not have validated reference ranges quoted in their method sheets. When ratios of analytes are important, as for conjugated and unconjugated bilirubin, the combined changes can cause confusion.