[Succinyl CoA:3 oxoacid CoA transferase deficiency: A case report].

Abstract

Background:

Succinyl-CoA:3 oxoacid CoA transferase deficiency (SCOTD) is a rare autosomal recessive disease, characterized by altered utilization of ketone bodies, with acute episodes of ketoacidosis.

Clinical case:

It is presented the case of a patient with SCOTD, with a first atypical episode accompanied by hyperglycemia, with 4 subsequent episodes with classic manifestations of the disease, presenting with a biochemical pattern of permanent ketonuria with marked elevation of ketone bodies (acetoacetate, 3 beta-hydroxybutyrate) in the study of urinary organic acids by gas chromatography and mass spectrometry, together with the clinical picture granting the diagnosis. It was started a maintenance therapy with a characteristic feeding plan; it was shown an adequate response to treatment, and the absence of permanent ketosis was surmised.

Conclusion:

Being a rare disease, the categorization of these patients as diabetic ketoacidosis is frequent. The clinical and biochemical characteristics with ketosis or persistent ketonuria should be analyzed very carefully, especially in patients presenting with hyperglycemia, which is an atypical manifestation of the disease, in order to make an early diagnosis and treatment, positively impacting the prognosis of patients.

• Authors: Miguel Angel Jurado-Aguirre, Ana Elena Pérez-Verdín
• Journal: Revista medica del Instituto Mexicano del Seguro Social (Rev Med Inst Mex Seguro Soc) Vol. 61 Issue 5 Pg. 691-694 (Sep 04 2023) ISSN: 2448-5667 [Electronic] Mexico
• Vernacular Title: Deficiencia de succinil-CoA acetoacetato transferasa: reporte de un caso.
• PMID: 37773183 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: Licencia CC 4.0 (BY-NC-ND) © 2023 Revista Médica del Instituto Mexicano del Seguro Social.

Chemical References

• succinyl-coenzyme A
• Coenzyme A-Transferases
• Ketone Bodies
• 3-Hydroxybutyric Acid

Topics

• Humans
• Coenzyme A-Transferases
• Ketone Bodies
• Ketosis (etiology)
• 3-Hydroxybutyric Acid (analysis)
• Hyperglycemia (complications)