• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.2
• /
• pp.109-114
• /
• 2016

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 $2,325{\mu}mol/L$, 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 $100{\mu}mol/L$ 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 follow-up 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.

• The Korean Journal of Mycology
• /
• v.26 no.4 s.87
• /
• pp.551-561
• /
• 1998

Plasma membrane from the fungal cells (Aspergillus phoenicis, Rhizopus acidus, Candida albicans) treated with sodium benzoate (S.B), potassium sorbate (P.S) and calcium propionate (C.P) during the cultivation were separated. The contents and patterns of plasma membrane proteins compared with those of the control. The growth of A. phoenicis was decreased by the average 64.0% in the S.B treatment. That of R. acidus was inhibited by the average 69.0% in the P.S treatment. Also, That of C. albicans was showed the deminution of the average 59.5% in the S.B treatment. The contents of protein involved in the plasma membrane of the each fungal cells were inhibited the average 41.0%, 41.7% and 59.5% in the S.B treatment, respectively. In case of A. phoenicis, the changes in the protein pattern involved in the plasma membraneshowed the aspect similar to the control on the 1st day and 2nd day of cultivation in the treatment group, but $116\;KD{\sim}97\;KD$ band almost disappeared in the 5th day of cultivation, and $45\;KD{\sim}29\;KD$ band was uncleared through the cultivation. In S.B treatment group R. acidus was showed the loss of $116\;KD{\sim}97\;KD$ band from the middle stage of cultivation and P.S, and C.P treatment group were started the loss at the early stage and completely lost at the 36 hours of cultivation. In C. albicans, $116\;KD{\sim}97\;KD$ band were started the loss at the early stage to compare with the control and $66\;KD{\sim}45\;KD$ band were dimmed at the 96 hours of cultivation. Especially, the C.P treatment group were perfectly lost at the 96 hours of cultivation.

• Journal of Food Hygiene and Safety
• /
• v.13 no.3
• /
• pp.221-231
• /
• 1998

The biosynthesis of galactolipid and the composition of fatty acid in chloroplast and thylakoid envelope isolated from C. ellipsoidea treated with antiseptics (potassium sorbate: PS, sodium benzoate:SB, calcium propionate:CP) were analyzed. The contents of monogalactosyldiacylglycerol (MGDG), digalactosyldiacylglycerol (DGDG) and total lipid in treatment with antiseptics were lower to compared with the control. The major fatty acid utilized for biosynthesis of MGDG in chloroplast envelope were palmitoleic acid (ave. 15.55%), oleic acid (ave. 15.09%) in control. Otherwise, the major fatty acids in P.S treatment were utilized for oleic acid (ave. 13.71%), linolenic acid (ave. 14.36%), palmitoleic acid (ave. 18.26%), oleic acid (ave. 17.26%) in S.B treatment, and oleic acid (ave. 16.88%), palmitoleic acid (ave. 16.31%) in CP treatment. It was showed that the major fatty acids in chloroplast envelope DGDG were oleic acid (ave. 15.75%), linolenic acid (ave. 17.74%) in control, oleic acid (ave. 14.90%), palmitoleic acid (ave. 15.97%) in P.S treatment, palmitoleic acid (ave. 13.29%), oleic acid (ave. 15.74%) in S.B treatment, and oleic acid (ave. 14.52%), palmitoleic acid (ave. 14.03%) in C.P treatment. The major fatty acid utilized for biosynthesis of MGDG in thylakoid envelope were linolenic acid (ave. 14.78%), oleic acid (ave. 12.90%) in control. Otherwise, the major fatty acids were utilized for palmitoleic acid (ave. 13.00%), palmitic acid (ave. 13.00%) in P.S treatment, palmitoleic acid (ave. 12.94%), oleic acid (ave. 12.43%) in S.B treatment, and oleic acid (ave. 12.43%), palmitoleic acid (ave. 12.43%) in C.P treatment. It was showed that the major fatty acids in thylakoid envelope DGDG were linolenic acid (ave. 18.01 %), oleic acid (ave. 15.53%) in control, linolenic acid (ave. 19.20%), linoleic acid (ave. 14.14%) in P.S treatment, palmitoleic acid (ave. 9.03%), oleic acid (ave. 14.85%) in S.B treatment, oleic acid (ave. 13.90%), linolneic acid(ave. 12.66%) in C.P treatment.