دورية أكاديمية
Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.
| العنوان: | Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency. |
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| المؤلفون: | Nelson AT; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States., Jones PM; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States., Cao J; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States; Children's Health System, Dallas, TX, United States. Electronic address: Jing.Cao2@UTSouthwestern.edu. |
| المصدر: | Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jun 15; Vol. 560, pp. 119747. Date of Electronic Publication: 2024 May 22. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam, Elsevier. |
| مواضيع طبية MeSH: | Carnitine*/analogs & derivatives , Carnitine*/blood , Carnitine*/urine , Holocarboxylase Synthetase Deficiency*/diagnosis , Holocarboxylase Synthetase Deficiency*/genetics, Humans ; Female ; Infant, Newborn ; Infant |
| مستخلص: | Context: Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl (C5-OH) acylcarnitine in blood can result from several genetic enzyme deficiencies: 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, primary 3-methylglutaconic aciduria, multiple biotin-dependent carboxylase deficiencies and biotin metabolism disorders. Biochemical tests help differentiate these causes while molecular tests are usually required for definitive diagnosis. Case Description: We reported an infant girl with newborn screen findings of elevated C5-OH acylcarnitine. She had further confirmational biochemical testing including plasma acylcarnitines, urine organic acids and urine acylglycines. Patient's urine organic acid profile showed markedly increased 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. Urine acylglycine test reported a large increase of 3-methylcrotonylglycine and plasma acylcarnitine test repeated the finding of elevated C5-OH acylcarnitine together with propionyl acylcarnitine elevation. These results point to multiple biotin-dependent carboxylase deficiency. Molecular tests revealed a homozygous mutation in the holocarboxylase synthetase gene that is consistent with her biochemical test findings. This case demonstrated the critical role of newborn screen in identifying inborn errors of metabolism that may otherwise be missed and lead to severe morbidity later in life. It also showcased that both biochemical and molecular tests are essential tools in the diagnosis. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 Elsevier B.V. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Biotin; C5-hydroxy acylcarnitine; Holocarboxylase synthetase deficiency; Inborn errors of metabolism |
| المشرفين على المادة: | S7UI8SM58A (Carnitine) 0 (acylcarnitine) |
| تواريخ الأحداث: | Date Created: 20240524 Date Completed: 20240613 Latest Revision: 20240627 |
| رمز التحديث: | 20240627 |
| DOI: | 10.1016/j.cca.2024.119747 |
| PMID: | 38788890 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1873-3492 |
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| DOI: | 10.1016/j.cca.2024.119747 |