Abstract
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We rep...
Highlights
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency (OMIM 245050) is an autosomal recessive disorder affecting ketone body utilization
These analyses confirmed the diagnosis of SCOT deficiency
While T2 deficiency usually has a characteristic profile of urinary organic acids, only a nonspecific increase in 3-hydroxybutyrate and acetoacetate could be detected in SCOT deficiency
Summary
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency (OMIM 245050) is an autosomal recessive disorder affecting ketone body utilization. In SCOT deficiency, ketone bodies produced from fatty acids and ketogenic amino acids in the liver cannot be used by the extrahepatic tissues. Patients with SCOT deficiency develop severe ketoacidotic episodes triggered by stress conditions, such as infection and fasting, within the neonatal period or around 6 to 24 months of age.[1] Because of the absence of specific urinary organic acids, except for large amounts of 3-hydroxybutyrate and acetoacetate, biochemical diagnosis using urinary organic acid analysis or blood acylcarnitine analysis is impossible. Permanent ketosis or ketonuria is a characteristic feature for SCOT deficiency. Enzyme assay or mutation analysis is necessary to confirm the diagnosis.[2]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Journal of Inborn Errors of Metabolism and Screening
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
