지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제19권 제1호
- 발행연도
- 2016.1
- 수록면
- 76 - 81 (6page)
이용수
초록· 키워드
오류제보하기
Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and hepatic encephalopathy as typical manifestations. In this report, we present a case of CPT1A deficiency present-ing jaundice as the first manifestation. A 1.9 years old boy showed jaundice and elevated levels of free and total carnitine were observed. From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G＞A and c.1393G＞A (p.Gly465Arg), were identified. At the age of 2.2 years, hypoglycemia, tachycardia, and altered mental status developed just after cranioplasty for craniosynostosis. High glucose infusion rate was required for recovery of his vital signs and mentality. Diet rich in high carbohydrate, low fat and inclusion of medium chain triglyceride oil resulted in improvement in cholestatic hepatitis and since then the boy has shown normal growth velocity and developmental milestones to date.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Collins SA / 2010 / Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut / Mol Genet Metab 101:200~204
Bennett MJ / 1993 / Carnitine palmitoyltransferase 1A deficiency / Seattle University of Washington
Lee BH / 2015 / Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly. / J Pediatr Gastroenterol Nutr 60:e19~e22
Bonnefont JP / 2004 / Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects / Mol Aspects Med 25:495~520
Morris AA / 2013 / Cholestatic jaundice associated with carnitine palmitoyltransferase IA deficiency / JIMD Rep 7:27~29
Bennett MJ / 1993 / Carnitine palmitoyltransferase 1A deficiency / Seattle University of Washington
Lee BH / 2015 / Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly. / J Pediatr Gastroenterol Nutr 60:e19~e22
Bonnefont JP / 2004 / Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects / Mol Aspects Med 25:495~520
Morris AA / 2013 / Cholestatic jaundice associated with carnitine palmitoyltransferase IA deficiency / JIMD Rep 7:27~29
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
CPT 코드의 역사와 현황, 구조
대한외과학회 학술대회 초록집
2022 .05
-
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
Cancer Research and Treatment
2016 .01
-
의료행위 분류체계 개선방향: 한국형 CPT 도입 필요성
대한외과학회 학술대회 초록집
2022 .05
-
Patient Understanding of Hypoglycemia in Tertiary Referral Centers
Diabetes and Metabolism Journal
2018 .01
-
Who Will Benefit from Charged-Particle Therapy?
Cancer Research and Treatment
2021 .01
-
Metabolic Pathway Signatures Associated with Urinary Metabolite Biomarkers Differentiate Bladder Cancer Patients from Healthy Controls
Yonsei Medical Journal
2016 .01
-
저혈당의 감별 진단
대한내과학회지
2021 .12
-
Increasing Individual Target Glucose Levels to Prevent Hypoglycemia in Patients with Diabetes
Korean Journal of Family Medicine
2021 .01
-
치과 치료 후 감각부전 장애 환자의 평가
대한법의학회지
2020 .01
-
Optimal Coefficient of Variance Threshold to Minimize Hypoglycemia Risk in Individuals with Well-Controlled Type 1 Diabetes Mellitus
Diabetes and Metabolism Journal
2024 .05
-
Technological Advances in Charged-Particle Therapy
Cancer Research and Treatment
2021 .01
-
당뇨병이 없는 노인 환자에서 급성 신기능 감소와 동반된 고인슐린혈증성 저혈당이 발생한 1예
Annals of geriatric medicine and research
2015 .01
-
The Effects of Deep Learning-Based Back Pain Management on Pain, Disability, Respiratory Muscle Strength, and Quality of Life in Patients with Low Back Pain
한국보건기초의학회지
2024 .06
-
Current perception threshold in diabetic sensory polyneuropathy with normal routine nerve conduction study
Annals of Clinical Neurophysiology
2017 .07
-
1,5-Anhydro-D-Glucitol Could Reflect Hypoglycemia Risk in Patients with Type 2 Diabetes Receiving Insulin Therapy
Endocrinology and Metabolism
2016 .01
-
Risk Factors and Adverse Outcomes of Severe Hypoglycemia in Type 2 Diabetes Mellitus
Diabetes and Metabolism Journal
2016 .01
-
Severe recurrent nocturnal hypoglycemia during chemotherapy with 6-mercaptopurine in a child with acute lymphoblastic leukemia
Annals of Pediatirc Endocrinology & Metabolism
2018 .01
-
Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Stepwise Approach to Problematic Hypoglycemia in Korea: Educational, Technological, and Transplant Interventions
Endocrinology and Metabolism
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0