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Inborn errors of ketone body utilization.

Tomohiro Hori1, Seiji Yamaguchi, Haruo Shinkaku

  • 1Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|January 7, 2015
PubMed
Summary

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) and beta-ketothiolase (T2) deficiencies are ketone body utilization disorders. Guidelines for diagnosis and treatment, focusing on avoiding fasting and early glucose infusion, improve patient outcomes.

Keywords:
inborn errors of ketone body utilizationketone bodyketone body metabolismmitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase/T2) deficiencysuccinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (T2) deficiencies are autosomal recessive disorders impacting ketone body utilization.
  • These conditions manifest as intermittent ketoacidosis, with severe genotypes potentially leading to permanent ketosis in SCOT deficiency.

Purpose of the Study:

  • To develop comprehensive guidelines for the diagnosis and treatment of ketone body utilization disorders.
  • To differentiate between SCOT and T2 deficiencies, especially in mild genotypes where typical biochemical profiles may be absent.

Main Methods:

  • Analysis of patient data from a worldwide clinical study, including Japanese cohorts.
  • Review of genetic mutation analysis, urinary organic acid analysis, and blood acylcarnitine analysis.

Main Results:

  • Permanent ketosis is a key indicator for severe SCOT deficiency but not T2 deficiency.
  • Mild T2 genotypes in Japan often lack typical biochemical diagnostic markers.
  • Established guidelines for disease diagnosis and treatment.

Conclusions:

  • Ketone body utilization disorders are treatable with management strategies like avoiding fasting and prompt glucose administration.
  • Early intervention ensures patients can grow without long-term sequelae.