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N Dingeon

Publications and source records attributed to N Dingeon.

4 recordsLinked to original sources
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↗
PubMed1977

[Hyperglycinemia without ketosis. Biochemical and enzymatic study].

We report a biochemical and enzymatic study of two neonatal cases of non ketotic hyperglycinemia. We report the comparative evolution of glycine level in plasma and CSF during a restrictive diet excluding glycine and serine. The high levels of glycine found in CSF and brain are likely to reflect the brain damage. After autopsy, the glycine synthase activity determination shows a significative partial deficiency in the liver and a total deficiency in the brain. Glycine synthase affinity for glycine is similar for controls and patients and this lead use to think that the deficiency is due to a diminished biosynthesis of the enzyme molecule.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

[Determination of glomerular and tubular clearance in children without urine collection].

The determination of glomerular and tubular clearance in a child was carried out by using a method excluding urine collection, with a continuous intravenous infusion of polyfructosan and para-amino-hippuric acid. A loading injection followed by a continuous perfusion provides a constant plasmatic level 150 minutes after the beginning of the study.

Aminohippuric Acids↗