0000000000038569
AUTHOR
A. W. Behbehani
showing 2 related works from this author
Comparative column chromatographic estimations of phenylalanine in plasma, whole blood, native and paper-dried capillary blood of healthy children an…
1984
The concentration of phenylalanine in plasma, whole venous and capillary blood, and paper-dried blood of 75 probands (25 healthy adults, 27 healthy children, and 23 patients with hyperphenylalaninaemia) were measured by use of a sensitive short column chromatography method. The comparison of the values in each group of probands by several statistic methods showed an excellent correlation of the phenylalanine concentration in paper-dried whole blood to those measured in venous plasma. Evaluation of the analytical method revealed a high sensitivity and accuracy by use of a sample volume of 50 microliter. We would therefore suggest that the estimation of phenylalanine for the diagnosis and the…
Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase
1984
A male infant had severe muscular hypotonia from birth. Recurrent vomiting with dehydration and severe metabolic acidosis complicated the course. Elevated lactate (up to 12.3 mmol/l; n less than 2), pyruvate (0.4 mmol/l; n less than 0.05) and alanine levels were found in serum with an abnormal lactate/pyruvate ratio (greater than 30; n less than 15). In urine the concentrations of lactate, pyruvate, alanine and of several intermediates of the citric acid cycle were increased. In muscle, numerous disseminated "ragged red fibres" were found by light microscopy; muscle fibres were found to contain subsarcolemmal aggregates of mitochondria, lipid droplets and glycogen by electromicroscopical me…