|
KMID : 0918520160160020109
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2016 Volume.16 No. 2 p.109 ~ p.114
|
|
|
A Case of Lethal Neonatal Type Carbamoyl Phosphate Synthetase 1 Deficiency with Novel Mutation of CPS1
|
|
Suh Seung-Hyun
Kim Yoo-Mi
Byun Shin-Yun
Son Seung-Kook
Kim Seong-Heon
Kim Hyung-Tae
Kim Gu-Hwan
Yoo Han-Wook
|
|
|
Abstract
|
|
|
Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to 2,325 μmol/L, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous
hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than 100 μmol/L at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last followup at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del (p.Gly510Alafs*5) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient’s mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.
|
|
|
KEYWORD
|
|
|
Urea cycle disorder, Carbamoyl phosphate synthetase 1 deficiency, CPS1, Hyperammonemia
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|