Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
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Emine Göksoy
,
Burcu Kumru Akın
Abstract
Objectives
Branched-chain organic acidemias (OAs) are inherited metabolic disorders resulting from enzyme deficiencies in the catabolic pathway of branched-chain amino acids, which could lead to mitochondrial dysfunction and oxidative stress. This study aimed to evaluate oxidative stress in OA patients using thiol-disulfide homeostasis (TDH) parameters.
Methods
21 OA patients [methylmalonic acidemia (MMA), propionic acidemia (PA), and isovaleric acidemia] and 12 healthy controls participated in this study. TDH parameters such as native thiol, total thiol, and disulfide levels, in addition to Oxidative Stress Index, Total Antioxidant Status, and Total Oxidant Status were analyzed using spectrophotometry.
Results
The OA group had significantly lower native (p=0.004) and total thiol (p=0.006) levels compared to controls. When analyzing subgroups, native thiols were found to be lower in MMA (p=0.012) and in PA (p=0.008) with elevated disulfides in MMA (p=0.003) in comparison to both PA and controls. As compared to abnormal neurodevelopmental status, there was a statistically significant relationship with lower native thiols and a shift towards oxidative stress (p=0.004).
Conclusions
The parameters of the TDH are altered in patients with OA, especially in those with MMA and PA, indicating a significant level of oxidative stress. The neurodevelopmental outcome in OA may be exacerbated by this oxidative imbalance. The utilization of TDH as a biomarker may be a potential provider of oxidative status in OA patients and facilitate informing therapeutic strategies.
Acknowledgments
We sincerely thank our patients’ family for their cooperation and willingness to participate in this study.
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Research ethics: This study was designed in accordance with the current revision of the Helsinki declaration and was approved by the local Ethical Committee of Gaziantep University Faculty of Medicine (Date:12.04.2023; No:2022/450).
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Informed consent: Informed consent was obtained from all patients for being included in the study.
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Author contributions: Emine Goksoy: Writing – original draft, Writing – review & editing, Visualization, Validation, Supervision, Methodology, Investigation, Formal analysis, Data curation, Conceptualization. Burcu Kumru Akın: Writing – review & editing, Methodology, Investigation, Formal analysis, Data curation. Mehmet Keskin: Methodology, Investigation, Formal analysis, Data curation. Hakim Çelik: Writing – review & editing, Supervision, Methodology, Investigation, Formal analysis, Data curation, Conceptualization.
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Use of Large Language Models, AI and Machine Learning Tools: ChatGPT (OpenAI) was used solely to improve the grammar and language of the manuscript. No content generation, data analysis, or interpretation was performed using AI tools.
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Conflict of interest: Authors state no conflict of interest.
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Research funding: This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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Data availability: The data that support the findings of this study are available upon reasonable request from the corresponding author.
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Articles in the same Issue
- Frontmatter
- Editorial
- Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
- Reviews
- Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
- Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
- Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
- Original Articles
- The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
- Characterizing the metabolome of children with growth hormone deficiency
- Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
- Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
- Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
- Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
- Case Reports
- Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
- Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
- Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
Articles in the same Issue
- Frontmatter
- Editorial
- Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
- Reviews
- Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
- Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
- Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
- Original Articles
- The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
- Characterizing the metabolome of children with growth hormone deficiency
- Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
- Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
- Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
- Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
- Case Reports
- Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
- Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
- Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
