|
KMID : 0918520170170010031
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 1 p.31 ~ p.37
|
|
|
A Case of Carbamoyl Phosphate Synthetase 1 Deficiency with Novel Mutations in CPS1 Treated by Liver Cell Transplantation
|
|
Lee Ji-Sun
Yang A-Ram
Kim Jin-Sup
Park Hyung-Doo
Lee Sang-Hoon
Lee Suk-Koo
Cho Sung-Yoon
Jin Dong-Kyu
|
|
|
Abstract
|
|
|
Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a
low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.
|
|
|
KEYWORD
|
|
|
Urea cycle disorder, Carbamoyl phosphate synthetase 1 deficiency, CPS1, Liver cell transplantation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|