[Metabolism of amino acids and urea cycle: animal models of enzymopathies].
This article is a review of the animal models which have been described until now for the inborn errors of amino acid metabolism and urea cycle. Two approaches have been explored to obtain such animal models: firstly oral or parenteral administration of the amino acid(s) accumulated in some enzymatic defects of the amino acid catabolism or urea cycle--specific enzymatic inhibitors have sometimes been used; secondly, the genetic approach, which is often the best method. Systematic screening of rat or mouse mutants obtained by experimental mutagenesis was performed in some cases. The relationships between the metabolic disturbances observed either in the inborn errors of metabolism or in the experimental models are discussed as well as the origin of the discrepancies often observed between human and animal syndromes.
Kamoun
P P
PP
Laboratoire de biochimie génétique, URA CNRS 1335, hôpital Necker-Enfants Malades, Paris, France.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000818:Animals; D004195:Disease Models, Animal; D004798:Enzymes / Q000172:deficiency*; D008659:Metabolic Diseases / Q000235:genetics; D051379:Mice; D051381:Rats; D014508:Urea / Q000378:metabolism*
D004798:Enzymes; D014508:Urea
Métabolisme des acides aminés et cycle de l'urée: modèles animaux des enzymopathies.