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Date Published: 09/04/2025
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DOI: https://doi.org/10.51298/vmj.v548i1.13315
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Vol. 548 No. 1 (2025)
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Các bài báo
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Nguyễn Ngọc, K., Lương Thị, H., & Vũ Chí, D. (2025). CLINICAL AND LABORATORY CHARACTERISTICS OF LATE-ONSET CONGENITAL FATTY ACID METABOLISM DISORDERS. Vietnam Medical Journal, 548(1). https://doi.org/10.51298/vmj.v548i1.13315

CLINICAL AND LABORATORY CHARACTERISTICS OF LATE-ONSET CONGENITAL FATTY ACID METABOLISM DISORDERS

Khánh Nguyễn Ngọc, Hải Lương Thị, Dũng Vũ Chí

Main Article Content

Abstract

Fatty acid oxidation disorders (FAOD) are rare autosomal recessive metabolic conditions caused by genetic variants that affect the enzymes and proteins responsible for transporting and metabolizing fatty acids within the mitochondria. These conditions are often diagnosed late, leading to fatal outcomes or severe complications. Objective: To describe the acute episode characteristics in children with late-onset congenital fatty acid metabolism disorders at the Vietnam National Children’s Hospital. Subjects: 13 patients diagnosed and treated from January 2017 to September 2023. Methods: Descriptive study. Results: Clinical features of acute episodes included the earliest onset age of 74 days and the latest at 160 months, with a median age of 27.8 months. The main clinical symptoms were hepatomegaly (92.3%), poor feeding (84.6%), lethargy (76.9%), and respiratory distress (69.2%). Laboratory findings showed elevated blood lactate levels (100%), elevated GOT (100%), elevated GPT (84.6%), metabolic acidosis (88.9%), and hypoglycemia (61.5%). Conclusion: Clinical and laboratory features of late-onset congenital fatty acid metabolism disorders are diverse and non-specific. Awareness in clinical practice is essential to avoid missed diagnoses. Keywords

Article Details

Keywords

Fatty acid metabolism disorders, mitochondrial β-oxidation

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