Single center experience of biotinidase deficiency: 259 patients and six novel mutations

2018 ◽  
Vol 31 (8) ◽  
pp. 917-926 ◽  
Author(s):  
Ebru Canda ◽  
Havva Yazici ◽  
Esra Er ◽  
Melis Kose ◽  
Gunes Basol ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gene Mutations ◽  
Biotinidase Deficiency ◽  
Common Mutation ◽  
Novel Mutations ◽  
Laboratory Findings ◽  
Western Turkey ◽  
Single Center Experience ◽  
Number Of Patients ◽  
Partial Deficiency

Abstract Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%–30% enzyme activity) and profound deficiency (0%–10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G>A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617_619del/TTG (p.Val207del), p.A287T(c.859G>A), p.S491H(c.1471A>G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population 

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

2021 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis and Burkholderia cepacia sepsis

2019 ◽  
Vol 6 (4) ◽  
pp. 1771
Author(s):  
Ravi Sharma ◽  
Anupam Chaturvedi ◽  
Sandeep Yadav ◽  
Rateesh Sareen
Keyword(s):  
Enzyme Activity ◽  
Metabolic Acidosis ◽  
Burkholderia Cepacia ◽  
Pediatric Intensive Care ◽  
Biotinidase Deficiency ◽  
Organic Aciduria ◽  
Anion Gap ◽  
Normal Enzyme ◽  
Urinary Organic Acid Analysis ◽  
Partial Deficiency

Biotinidase deficiency (BD) is an inborn metabolic disorder caused by low enzyme activity giving rise to impaired biotin release from dietary proteins. The first symptoms may be seen at first week following birth until 1 year of age. The goal of the therapy is to increase biotin bioavailability by daily 5-20 mg lifelong biotin replacement. Three-month-old girl born to nonconsanguineous parents, admitted to pediatric intensive care with multiple seizures, breathing difficulty and posturing. Blood investigations showed thrombocytopenia and high anion gap metabolic acidosis (HAGMA). Enzyme assay for biotinidase revealed low activities. Urinary organic acid analysis was normal. Enzyme activity is <10% in severe cases whereas between 10-30% in partial deficiency. BD can cause metabolic ketoacidosis, Hyperammonemia and organic Aciduria. BD behaves like immunodeficiency. Rarely bacterial infection can be seen. Treatment is lifelong biotin replacement.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods A total of 252 unrelated Lao Theung participants residing in the Lao People’s Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed. Results The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62% (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13% (23/252). The prevalence of G6PD deficient males and females (activity < 30%) in the Lao Theung population was 6.41% (5/78) and 1.72% (3/174), respectively, and the prevalence of G6PD intermediate (activity 30–70%) was 5.95% (15/252). Conclusions The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study.Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.52 % (24/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population 

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

A 7-Year Single-Center Experience of Transfemoral TAVI: Evolution of Surgical Activity and Impact on Vascular Outcome

Angiology ◽  
2017 ◽  
Vol 69 (6) ◽  
pp. 532-539 ◽  
Author(s):  
Fabien Lareyre ◽  
Juliette Raffort ◽  
Carine Dommerc ◽  
Yacoub Habib ◽  
François Bourlon ◽  
...  
Keyword(s):  
Academic Research ◽  
Postoperative Mortality ◽  
Single Center Experience ◽  
Transcatheter Aortic Valve ◽  
Number Of Patients ◽  
Vascular Outcome ◽  
Identity Changes ◽  
Research Consortium ◽  
Valve Implantation ◽  
Transfemoral Tavi

Transcatheter aortic valve implantation (TAVI) has become a well-established alternative to open surgery to treat aortic stenosis. We describe our 7-year TAVI experience using transfemoral access and identity changes in surgical activity and evaluate its impact on postoperative vascular outcomes. Consecutive patients (N = 340) who underwent TAVI with percutaneous transfemoral access were retrospectively included and divided into 4 quartiles according to the date of intervention. Vascular outcomes were classified according to the Valve Academic Research Consortium 2 classification. The number of patients who underwent transfemoral TAVI increased over time and their clinical characteristics evolved, with a lower Society of Thoracic Surgeons score and less comorbidities. The material used evolved and TAVI could be performed despite higher iliac calcification and tortuosity scores. With experience, the procedural time, the postoperative length of stay at hospital, and the 30-day postoperative mortality significantly decreased. No significant change was observed for vascular outcome, except for minor hematoma. We witnessed an increase in transfemoral TAVI procedure, with changes in clinical and procedural characteristics associated with an improvement in postoperative outcomes.

The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Emre Sarıkaya ◽  
Dilek Çiçek ◽  
Ebru Gök ◽  
Leyla Kara ◽  
Uğur Berber ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Metabolic Control ◽  
Glycosylated Hemoglobin ◽  
Emergency Admissions ◽  
Single Center Experience ◽  
Number Of Patients ◽  
Significant Difference ◽  
Before And After ◽  
One Year

Abstract Objectives Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period. Materials and Methods Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study. The last visit data of the patients before and after the declaration of the pandemic, and the frequency of presentation of diabetes-related emergencies from one year after diagnosis of type 1 diabetes to the declaration of the pandemic, and from the declaration of the pandemic to the last visit after the pandemic declaration were compared. Results The total number of patients was 89, and 48 (53.9%) were boys. The mean (± standard deviation [SD]) age at diagnosis was 8.4 ± 3.7 years (boys 7.9 ± 3.6 years; girls 8.9 ± 3.9 years). There was no statistically significant difference when the SD values of the anthropometric measurements, and the glycosylated hemoglobin (HbA1c) and lipid profile tests were compared. However, the frequency of admission to the emergency service related to diabetes was significantly different. Conclusions Although the pandemic did not significantly affect the metabolic and glycemic controls of the children with type 1 diabetes included in this study, an increase in the frequency of diabetes-related emergency admissions was noted.

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