Work

Beta-ketothiolase deficiency with neurological impairment: a case report

Year: 2025

Type: article

Abstract: Introduction and importance: Beta-ketothiolase deficiency (BKTD) is a rare inborn error of metabolism that impairs both isoleucine catabolism and ketone body utilization. The disorder may present with acute metabolic crises, often precipitated by infections or fasting, and can lead to life-threatening complications if not promptly diagnosed and managed. Case presentation: We report the case of a previously healthy 2.8-year-old man who developed vomiting, diarrhea, and fever, followed by progressive loss of consciousness. Neurological examination revealed generalized muscle rigidity, limb spasticity, and asymmetrical pupils. Laboratory investigations showed severe metabolic acidosis, hyperammonemia, and acute kidney injury. Neuroimaging findings included bilateral basal ganglia involvement and cerebellar abnormalities. Metabolic workup demonstrated elevated urinary organic acids, confirming BKTD, which was subsequently validated through genetic analysis identifying an ACAT1 gene mutation. Clinical discussion: This case underscores the importance of considering metabolic disorders in critically ill pediatric patients presenting with acute neurological symptoms and metabolic deterioration. Early recognition of BKT deficiency is crucial, as targeted metabolic management – including dietary intervention and comprehensive supportive care – can mitigate acute crises and prevent long-term neurological sequelae. Conclusion: Early metabolic evaluation in children with unexplained neurological decline remains essential. Prompt diagnosis and timely initiation of appropriate management strategies significantly improve outcomes in patients with BKTD.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000003958

Authors: Ibrahim Al-sawadi, Barah Hussain

Institution: Istanbul University-Cerrahpaşa

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,850