Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
Clin Chim Acta
; 526: 55-61, 2022 Feb 01.
Article
in En
| MEDLINE
| ID: mdl-34973183
ABSTRACT
PURPOSE:
Carbamoyl phosphate synthetase 1 (CPS1) deficiency affects the first step of urea cycle and is a severe form of urea cycle disorder (UCD). The severity of hyperammonemic encephalopathy determines the clinical course of UCDs. Here, we describe the genetic and clinical characteristics of CPS1 deficiency in Korea. PATIENT ANDMETHODS:
This study included seven patients with CPS1 deficiency genetically confirmed from January 1992 to September 2020. The peak ammonia level during the first crisis, the half time of peak ammonia level, the initial plasma amino acid levels, and neurological outcomes were compared between CPS1 deficiency and two common UCDs (i.e., 17 patients with argininosuccinate synthetase 1 deficiency and 24 patients with ornithine transcarbamylase deficiency).RESULT:
Eleven CPS1 mutations were identified, including 10 novel mutations. Eight mutations were missense. Six patients with CPS1 deficiency had neonatal type. The peak ammonia level, initial glutamate level, and accompanying rate of irreversible neurological damages were highest in patients with CPS1 deficiency. The patient with late-onset CPS1 deficiency responded dramatically to N-carbamylglutamate treatment.CONCLUSION:
The clinical manifestations of CPS1 deficiency were the most severe among UCDs. Considering the high proportion of missense mutations, responsiveness to N-carbamylglutamate would be evaluated in a future study.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Carbamoyl-Phosphate Synthase (Ammonia)
/
Carbamoyl-Phosphate Synthase I Deficiency Disease
/
Urea Cycle Disorders, Inborn
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Newborn
Language:
En
Journal:
Clin Chim Acta
Year:
2022
Document type:
Article
Affiliation country: