" /> HMG-CoA Lyase Deficiency - CISMeF





Preferred Label : HMG-CoA Lyase Deficiency;

NCIt synonyms : 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency; 3-OH 3-Methyl Glutaric Aciduria;

NCIt related terms : Hydroxymethylglutaryl-CoA Lyase Deficiency; Deficiency of Hydroxymethylglutaryl-CoA Lyase; Hydroxymethylglutaric Aciduria;

NCIt definition : A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.