Scholarlink

Background <p>Mitochondrial Complex IV deficiency, Nuclear Type 1, is a genetic metabolic disorder inherited in an autosomal recessive pattern, characterized by rapid and progressive neurodegeneration and encephalopathy.</p> Case report <p>We present a 2-year-old female patient, daughter of healthy, and consanguineous parents, born at term with normal newborn screening results. At 1&#xa0;year and 7&#xa0;months, she began experiencing recurrent vomiting, developmental regression, and a significant drop in weight and height percentiles. Laboratory tests revealed elevated lactate and MRI findings suggestive of mitochondrial disease. Whole-exome sequencing (WES) identified a pathogenic variant in the <i>SURF1</i> gene (OMIM # 220,110) c.552del (p.Lys185Argfs*3).</p> Discussion <p>Mitochondrial Complex IV deficiency, Nuclear Type 1, associated with the <i>SURF1</i> gene clinical symptoms include developmental delays, motor abnormalities, and recurrent episodes of metabolic crisis. The combined prevalence of mitochondrial disorder is approximately one in 4300 children, making these disorders one of the most common neurometabolic conditions in pediatrics. The late-onset in this case report, at 1&#xa0;year and 7&#xa0;months, represents a unique feature, as most cases manifest earlier.</p> Conclusion <p>The findings emphasize the need for clinicians to consider SURF1-related mitochondrial Complex IV deficiency even in patients presenting later in childhood. This case also highlights the importance of multidisciplinary management and supports further research into genotype–phenotype correlations, prognostic markers, and potential therapeutic approaches, which remain limited for this condition.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Late-onset mitochondrial complex IV deficiency, nuclear type 1 associated with the SURF1 gene: a case report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月14日

查看全文
  • Lisandra Coneglian de Farias Rigoldi,
  • Mariana Jordão França,
  • Daniel Almeida do Valle,
  • Mara Lucia Schmidt Ferreira Santos,
  • Mayla Cristine de Souza,
  • Andressa Taine Szczypkovski,
  • Mônica Alexandra de Conto,
  • Suelen dos Santos Henrique,
  • Bruno Augusto Teles

摘要

Background

Mitochondrial Complex IV deficiency, Nuclear Type 1, is a genetic metabolic disorder inherited in an autosomal recessive pattern, characterized by rapid and progressive neurodegeneration and encephalopathy.

Case report

We present a 2-year-old female patient, daughter of healthy, and consanguineous parents, born at term with normal newborn screening results. At 1 year and 7 months, she began experiencing recurrent vomiting, developmental regression, and a significant drop in weight and height percentiles. Laboratory tests revealed elevated lactate and MRI findings suggestive of mitochondrial disease. Whole-exome sequencing (WES) identified a pathogenic variant in the SURF1 gene (OMIM # 220,110) c.552del (p.Lys185Argfs*3).

Discussion

Mitochondrial Complex IV deficiency, Nuclear Type 1, associated with the SURF1 gene clinical symptoms include developmental delays, motor abnormalities, and recurrent episodes of metabolic crisis. The combined prevalence of mitochondrial disorder is approximately one in 4300 children, making these disorders one of the most common neurometabolic conditions in pediatrics. The late-onset in this case report, at 1 year and 7 months, represents a unique feature, as most cases manifest earlier.

Conclusion

The findings emphasize the need for clinicians to consider SURF1-related mitochondrial Complex IV deficiency even in patients presenting later in childhood. This case also highlights the importance of multidisciplinary management and supports further research into genotype–phenotype correlations, prognostic markers, and potential therapeutic approaches, which remain limited for this condition.