A new case of succinyl-CoA: Acetoacetate transferase deficiency

  title={A new case of succinyl-CoA: Acetoacetate transferase deficiency},
  author={Celia P{\'e}rez-Cerd{\'a} and Bego{\~n}a Merinero and P. Sanz and A. Jim{\'e}nez and Christine C. Hernandez and M. J. Garc{\'i}a and Magdalena Ugarte},
  journal={Journal of Inherited Metabolic Disease},
Succinyl-CoA transferase deficiency (McKusick 245050) is a rare inherited metabolic disease affecting ketone body utilization in peripheral tissues. Succinyl-CoA: 3-ketoacid CoA transferase (3-OAT; EC is the first enzyme involved in acetoacetate utilization, and it acts by transferring a CoA molecule from succinyl-CoA to acetoacetate. Acetoacetyl-CoA is further converted to acetyl-CoA by mitochondrial acetoacetyl-CoA thiolase (AAT; EC, an enzyme also involved in the isoleucine… 
A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency
A new case of SCOT deficiency in Japan is reported and SCOT activity in the lymphocytes of the patient and his family are reported, and the prognosis of these patients seems to parallel the severity of the SCot deficiency.
Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts
SummarySuccinyl-CoA:3-ketoacid CoA-transferase deficiency leads to a severe ketoacidosis presenting in infancy. We describe two siblings of African ancestry who presented with repeated episodes of
Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency
This communication is to report a tenth patient from another far eastern country, Pakistan, and to suggest that this disease may not be very rare but rather is underdiagnosed.
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.
We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature
Defects of ketolysis probably are underdi agnosed disorders and should be considered in infants and young children with persistent ketosis.
This report is the first of prenatal diagnosis of SCOT deficiency in a fetus in a family of which the proband was the first patient withSCOT deficiency identified in Japan, by analysis of enzyme activity levels in samples of chorionic villi and cultured amniocytes.
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
The data indicate that heterozygous carriers of OXCT1 mutations can develop severe ketoacidotic episodes in conjunction with ketogenic stresses.
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
Patients with SCOT deficiency do not always manifest ketosis with administration of a sufficient amount of carbohydrates, but that even under such conditions hyperketonaemia is difficult to eliminate completely, indicating the presence of hypoglycaemia does not exclude the diagnosis of SCot deficiency in infancy.


Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.
It was concluded that the absence of CoA-transferase activity resulted in a loss of intracellular homeostasis leading to ketoacidosis and appears to be a reasonable explanation for the alteration in glucose metabolism that was previously reported in fibroblasts from this patient.
Acetoacetyl CoA Thiolase Deficiency Presenting as Ketotic Hypoglycemia
ABSTRACT: We report two children who presented with hypoglycemia and metabolic acidosis in whom acetoacetyl- CoA thiolase (EC measured in fibroblast homogenates was deficient. Deficiency of
Hyperketotic states due to inherited defects of ketolysis.
The knowledge of these ketolytic defects must severely question the complacent diagnosis of 'fasting ketoacidosis' or 'idiopathic ketotic hypoglycemia', mainly when severe metabolic acidosis is present.
The oxoacyl-coenzyme A thiolases of animal tissues.
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The properties and the different thiolases and their tissue distribution is discussed with respect to their possible roles in metabolism.
Citrate synthase.
Acetoacetyl CoA thiolase deficiency
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Infantile ketoacidosis associated with
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Hyperketotic states due to inherited
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The oxoacyl-CoA thiolases of animal tissues
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