Beta-ketothiolase deficiency with neurological impairment: a case report

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.

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Publication Details

Journal
Annals of Medicine and Surgery
Published
2025-09-30
DOI
https://doi.org/10.1097/ms9.0000000000003958
Primary Topic
Diet and metabolism studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Beta-ketothiolase deficiency with neurological impairment: a case report

Barah Hussain, Ibrahim Alsawadi
Annals of Medicine and Surgery
Diet and metabolism studies
article

Beta-ketothiolase deficiency with neurological impairment: a case report

Barah Hussain, Ibrahim Alsawadi
article en

Abstract

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.

Annals of Medicine and SurgeryVol. 87(11)
Damascus Hospital (SY), Istanbul University-Cerrahpaşa (TR), Central Research Institute of Ferrous Metallurgy I P Bardina (RU), Istanbul University (TR), Damascus University (SY)
Openalex Percentile: Top 65%
Diet and metabolism studies
DOIOpen Access PDFOpenAlex
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