Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion

ABSTRACT Succinyl‐CoA: 3‐oxoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder caused by biallelic sequence variants in the OXCT1 gene. This deficiency disrupts ketone body utilization, resulting in ketone accumulation and ketoacidosis. Clinical manifestations typically in...

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Main Authors: Mo'ath Abu Hamdeh, Lema Jaber, Jamal Abdullah, Anas Manhal, Mahmoud M. Qouqas, Mohammed Aldwaik, Sarah Abu Rmeilah, Mutaz Sultan, Shaher Shweiki, Nadirah Damseh
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
ketonuria
metabolic acidosis
OXCT1 gene
SCOT
succinyl‐CoA:3‐ketoacid‐CoA transferase
Online Access:https://doi.org/10.1002/jmd2.70024
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https://doi.org/10.1002/jmd2.70024

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