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Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients
المؤلفون المشاركون
Cao, Bing-Yan
Gong, Chun-xiu
Wu, Di
Liu, Min
Li, Wenjing
Su, Chang
Liang, Xuejun
Chen, Jiajia
Qin, Miao
Meng, Xi
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-09-16
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Objective.
To characterize the genotype and phenotype of Chinese patients with congenital hyperinsulinism (CHI) caused by activating mutations in GLUD1, the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH).
Methods.
The clinical data of glutamate dehydrogenase hyperinsulinism (GDH-HI) patients were reviewed, and gene mutations were confirmed by whole exome sequencing (WES) and Sanger DNA sequencing.
Results.
Twenty-six patients with GDH-HI heterozygous missense mutations were identified from 240 patients diagnosed as congenital hyperinsulinism over past 15 years.
The median age at onset was 8 months (range: 1 day of life to 3 years).
Seizure disorder was common in our cohort of patients (23/26).
Four patients had normal serum ammonia levels; the median serum concentration was 101 μmol/L (range: 37–190 μmol/L).
Hypoglycemic symptoms could be triggered by fasting or protein meals in all patients while blood glucose could be well controlled in all patients with diazoxide.
Dosage of diazoxide could be reduced by protein restriction.
Attempts to lower ammonia levels failed with different therapies such as protein restriction, benzoate, or N-carbamoyl glutamate.
In follow-up, 15 of 26 patients had normal intelligence.
Eleven patients developed epilepsy at the age of 6 months to 11 years.
De novo mutations in GLUD1 were found in 24 cases, and dominant inheritance was observed in the other two; all were heterozygous.
A total of 35% (9/26) patients carried c.1493C>T (p.S445L) mutation.
Conclusions.
Phenotypic heterogeneity of GDH-HI patients was observed within the Chinese cohort in the present study.
The fact that most patients had a GLUD1 p.
S445L mutation implies that this site could be a hotspot in Chinese patients.
A high frequency of GDH-HI with normal ammonia has been reported in this study.
Hence, GLUD1 mutational analysis may be an important method to differential diagnosis of GDH-HI from other diazoxide-responsive CHI in Chinese patients.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Su, Chang& Liang, Xuejun& Li, Wenjing& Wu, Di& Liu, Min& Cao, Bing-Yan…[et al.]. 2018. Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Journal of Diabetes Research،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1183391
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Su, Chang…[et al.]. Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Journal of Diabetes Research No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1183391
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Su, Chang& Liang, Xuejun& Li, Wenjing& Wu, Di& Liu, Min& Cao, Bing-Yan…[et al.]. Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. Journal of Diabetes Research. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1183391
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1183391
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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