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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.
J Pediatr Endocrinol Metab 2017; 30(10):1121-1124JP

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.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28820737

Citation

Schwade, Jan-Niclas, et al. "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." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 30, no. 10, 2017, pp. 1121-1124.
Schwade JN, Endmann M, Hofmann T, et al. 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. J Pediatr Endocrinol Metab. 2017;30(10):1121-1124.
Schwade, J. N., Endmann, M., Hofmann, T., Rust, S., Sass, J. O., & Rutsch, F. (2017). 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. Journal of Pediatric Endocrinology & Metabolism : JPEM, 30(10), pp. 1121-1124. doi:10.1515/jpem-2017-0177.
Schwade JN, et al. 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. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1121-1124. PubMed PMID: 28820737.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Schwade,Jan-Niclas, AU - Endmann,Matthias, AU - Hofmann,Thomas, AU - Rust,Stephan, AU - Sass,Jörn Oliver, AU - Rutsch,Frank, PY - 2017/05/01/received PY - 2017/07/17/accepted PY - 2017/8/19/pubmed PY - 2018/5/31/medline PY - 2017/8/19/entrez KW - ketolysis KW - metabolic acidosis KW - phenylketonuria SP - 1121 EP - 1124 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 30 IS - 10 N2 - 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. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/28820737/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 L2 - https://www.degruyter.com/doi/10.1515/jpem-2017-0177 DB - PRIME DP - Unbound Medicine ER -