Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Purpose: Aquaporin 7 (AQP7) belongs to the aquaglyceroporin family, which transports glycerol and water. AQP7-deficient mice develop obesity, insulin resistance, and hyperglyceroluria. However, AQP7's pathophysiologic role in humans is not yet known.

Homocysteine measurement by Vitros Microtip homocysteine assay.

Background: Elevated circulating total homocysteine is an independent vascular risk factor. Enzymatic homocysteine measurements represent an alternative to HPLC- or immunochemistry-based assays, suitable for automation. Here, we report on analytical performance of a commercial cystathionine beta-synthase-based assay, for use on Vitros automated analyzers.

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

The diagnosis of a mitochondrial disorder is often difficult. Therefore, new approaches and diagnostic criteria are being developed. One of these tests is the aerobic forearm exercise test, a screening tool that can contribute to assess whether or not the patient suffers from a mitochondrial myopathy.

Plasma-equivalent glucose at the point-of-care: evaluation of Roche Accu-Chek Inform and Abbott Precision PCx glucose meters.

Background: Glucose testing at the bedside has become an integral part of the management strategy in diabetes and of the careful maintenance of normoglycemia in all patients in intensive care units. We evaluated two point-of-care glucometers for the determination of plasma-equivalent blood glucose.

Methods: The Precision PCx and the Accu-Chek Inform glucometers were evaluated.

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.

During the metabolic work-up of a patient presenting with neonatal convulsions, we consistently observed the presence of unusual peaks in the gas chromatographic-mass spectrometric analysis of urinary organic acids. The gas chromatographic-mass spectrometric characteristics of the unusual peaks suggested that they corresponded to derivatives of N-acetylated amino acids. The tentative identification was confirmed by the identity of retention times and mass spectra of the trimethylsilyl derivatives of the authentic compounds.