دورية
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1in an infant with known phenylketonuria
| العنوان: | When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1in an infant with known phenylketonuria |
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| المؤلفون: | Schwade, Jan-Niclas, Endmann, Matthias, Hofmann, Thomas, Rust, Stephan, Sass, Jörn Oliver, Rutsch, Frank |
| المصدر: | Journal of Pediatric Endocrinology & Metabolism; October 2017, Vol. 30 Issue: 10 p1121-1124, 4p |
| مستخلص: | 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 OXCT1gene 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. |
| قاعدة البيانات: | Supplemental Index |
Full Text Finder | تدمد: | 0334018X 21910251 |
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| DOI: | 10.1515/jpem-2017-0177 |