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Biomedical subjects

P Divry

Publications and source records attributed to P Divry.

At least 19 recordsLinked to original sources
PubMed1992

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts.

Medium chain acyl-CoA dehydrogenase (MCAD) and long chain acyl-CoA dehydrogenase (LCAD) deficiency are defects of mitochondrial beta-oxidation. The method of choice to measure specifically acyl-CoA dehydrogenase activity in human tissues uses purified electron transfer flavoprotein (ETF). We describe a simple and optimized method of purification allowing isolation of ETF with a degree of purity never reported so far. An assay for acyl-CoA dehydrogenase activity in cultured skin fibroblasts was developed using microquantities of electron transfer flavoprotein and substrate. MCAD deficiency was demonstrated in fibroblasts from nine patients and LCAD deficiency in fibroblasts from two patients.

Acyl-CoA Dehydrogenase↗
PubMed1992

[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].

Regarding a case of beta-ketothiolase deficiency revealed by ketoacidosis with hyperglycinemia, the authors show the way to diagnose and to treat this disease. Ketoacidosis without hyperglycemia or lactacidemia suggested this diagnosis. Gas chromatography-mass-spectrography revealed unusual urinary excretion of metabolic products of isoleucine. The enzymological study of fibroblasts confirmed the diagnosis. The treatment of acute episodes consisted of acidosis control and exclusive glucides intake before diagnosis. Afterwards, a controlled proditic diet and L-carnitine must be given and fasting must be avoided.

Acetyl-CoA C-Acyltransferase↗
PubMed1991

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of onset, 3 years). Other patients presented with episodes of fasting hypoglycemia during the first 2 years of life before cardiomyopathy had become apparent. A defect in carnitine uptake was demonstrable in fibroblasts and leukocytes from patients. The defect also appears to be expressed in muscle and kidney. Concentrations of plasma carnitine and rates of carnitine uptake in parents were intermediate between affected patients and normal control subjects, consistent with recessive inheritance. Early recognition and treatment with high doses of oral carnitine may be life-saving in this disorder of fatty acid oxidation.

Biological Transport↗
PubMed1991

[Lysine metabolism in man].

Lysine is an important amino acid: it is incorporated to collagene, one of the most important component of conjonctive tissue and, though, necessary for growth. It is also important for carnitine synthesis. Its intestinal absorption requires two transport systems that lysine shares with ornithine, arginine and cystine for the former and with ornithine and arginine for the latter. The same transport systems are present in the hepatocytes, were lysine is extensively catabolized, and in renal tubular cells. The main catabolic pathway for lysine, via saccharopine, is a mitochondrial pathway leading to acetyl-CoA. The peroxisomal pathway, via pipecolic acid is of less physiological importance and is mainly active in brain. The existence of the two minor pathways, the acetyllysine pathway and the lysine-urea cycle, remains to be demonstrated.

Humans↗
PubMed1991

[Inborn errors of lysine metabolism].

A wide variety of inborn errors of lysine catabolism have been described. They include: abnormalities of the mitochrondrial catabolism via the "saccharopine pathway", abnormalities of the peroxisomal catabolism via the pipecolic pathway, and "lysine intolerance with periodic ammonia intoxication" linked to urea cycle pathway. These inborn errors are associated with a wide variety of clinical symptoms and biochemical profiles as persistent hyperlysinemia, saccharopinuria, "amino and ketoadipic aciduria, and glutaric aciduria.

2-Aminoadipic Acid↗
PubMed1979

[Glutaric aciduria. 1 new case].

A 4 year old girl with mild mental retardation presented with convulsions, coma and hepatomegaly. She died rapidly. The main biochemical findings were hypoglycaemia, metabolic acidosis, generalised aminoaciduria, elevation of the plasma and urine alpha-amino adipic acid, massive urine excretion of glutaric and glutaconic acids with traces of alpha-hydroxyglutaric acid. The diagnosis of glutaric aciduria was confirmed by the low activity of glutaryl CoA dehydrogenase in liver tissue. This diagnosis should be considered in children with progressive neurological disorders (dystonia, choreoathetosis) and in children with an illness similar to Reye's syndrome.

Amino Acid Metabolism, Inborn Errors↗
PubMed1978

[Trickling mucography under high pressure and with moderate contrast. First phase of gastroduodenal examinations (author's transl)].

The authors describe a simple and reliable technique of successive mucography of the anterior and posterior surfaces of the stomach. The examination is begun in a seated position, in dorsal horizontal and trickling provides perfect conditions of study, selective and with no opaque superimposition, of the posterior surface of the stomach, the site of 90% of organic lesions. Study of the anterior surface is also simplified. Practically no patient cooperation is required and the technique may be used in the elderly and those with physical incapacity. The aim is to obtain a morphologically and physiologically pure picture of the mucosa and the gastric folds. Very small lesions may be visualised without resort to other techniques and the study of cases of gastritis is greatly simplified.

Barium Sulfate↗
PubMed1977

[Painful and transient spasm of the cardioesophageal sphincter (author's transl)].

The writers describe a painful and transient spasm of the lower esophageal sphincter. Clinically, it is a matter of total aphagia, which is painful and prolonged, and occurs during eating; it always responds to medical treatment (rehydratation and antispasmodics), and it does not exceed 48 hours. An X-ray examination is both essential and characteristic: it visualizes the spasm of the lower esophageal sphincter in its full extent, the food gap, the sideration of the thoracic esophagus, and the disappearance of the air pocket. A perfect understanding of these clinical and and radiological signs enables a recognition of the functional nature of this medically curable condition, and thus aids patients of all ages to avoid an unecessary surgical operation.

Aged↗