When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria
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Jan-Niclas Schwade
Abstract
A 9-month-old Turkish girl was admitted several times within 3 months to the hospital in reduced general condition and with extreme tachypnea. The patient had been diagnosed with phenylketonuria (PKU) in newborn screening and has been treated with a low phenylalanine diet and amino acid supplements. Each time an unexplained pronounced metabolic acidosis was noted, and the child was treated with sodium-bicarbonate and glucose-electrolyte infusions. The acidosis with only slightly abnormal glucose, normal lactate levels and pronounced ketonuria suggested a defect in ketone body utilization. Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) enzyme activity was low in patient’s fibroblasts. Mutation analysis of the corresponding OXCT1 gene revealed that the patient was a homozygous carrier of the mutation c.1523T>C (p.V508A). We conclude that SCOT deficiency should be considered in the differential diagnosis in patients with recurrent metabolic acidotic episodes, even if they are already known to have a metabolic disease unrelated to this.
Acknowledgments
We are grateful to Miriam Petersen and Sibylle Flössner (MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany) for enzyme activity testing and Ingrid Du Chesne (Münster University Children’s Hospital) for mutation analysis.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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- Frontmatter
- Review
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- Original Articles
- Relation of insulin resistance to neurocognitive function and electroencephalography in obese children
- Body weight misperception and health-related factors among Iranian children and adolescents: the CASPIAN-V study
- Do sufficient vitamin D levels at the end of summer in children and adolescents provide an assurance of vitamin D sufficiency at the end of winter? A cohort study
- Type 3 renal tubular acidosis associated with growth hormone deficiency
- Serum α-klotho levels are not informative for the evaluation of growth hormone secretion in short children
- Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test
- Pediatric differentiated thyroid carcinoma: trends in practice and outcomes over 40 years at a single tertiary care institution
- Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome
- A pilot study on the utility of reduced urine collection frequency protocols for the assessment of reproductive hormones in adolescent girls
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