Article
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
Gene - 10 Feb 2012
Funghini S, Thusberg J, Spada M, Gasperini S, Parini R, Ventura L, Meli C, De Cosmo L, Sibilio M, Mooney S D, Guerrini R, Donati M A, Morrone A
Abstract excerpt
Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder, potentially leading to lethal hyperammonemia. Based on the age of onset, there are two distinct phenotypes: neonatal and late form. The CPS1 enzyme, located in the mitochondrial matrix of hepatocytes and epithelial cells of intestinal mucosa, is encoded by the CPS1 gene. At present more than 220 clear-cut...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.