تقرير
Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.
| العنوان: | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B. |
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| المؤلفون: | Xue M; Department of Endocrinology, Zhongnan Hospital of Wuhan University, Wuhan, China. |
| المصدر: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jul 07; Vol. 14, pp. 1199590. Date of Electronic Publication: 2023 Jul 07 (Print Publication: 2023). |
| نوع المنشور: | Case Reports; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Lausanne : Frontiers Research Foundation] |
| مواضيع طبية MeSH: | Pyruvate Carboxylase Deficiency Disease*/diagnosis , Pyruvate Carboxylase Deficiency Disease*/genetics , Acidosis, Lactic*, Pregnancy ; Female ; Humans ; Pyruvate Carboxylase/genetics ; Seizures ; Muscle Hypotonia |
| مستخلص: | Background: Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal movement, and seizures. Case Presentation: Here, we report the first case of type B PCD in China, presenting with intractable lactic acidosis shortly after birth. A compound heterozygous mutation in the PC gene was identified by whole-exome sequencing, NM_001040716.2: c.1154_1155del and c.152G>A, which were inherited from her asymptomatic parents, respectively. Furthermore, prenatal neuroradiological presentations including widened posterior horns of lateral ventricles, huge subependymal cysts, and increased biparietal diameter and head circumference were concerned. Symptomatic treatment was taken and the infant died at 26 days. Conclusion: To our knowledge, this is the minimum gestational age (22w5d) that's when the prenatal onset of the neuroradiologic phenotype of PCD was observed. PCD has a poor prognosis and lacks an effective treatment, so this paper is shared to highlight the importance of PCD prenatal diagnosis in the absence of family history. Competing Interests: The author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Xue.) |
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| فهرسة مساهمة: | Keywords: case report; genetic analysis; neurological injury; prenatal diagnosis; pyruvate carboxylase deficiency |
| المشرفين على المادة: | EC 6.4.1.1 (Pyruvate Carboxylase) |
| تواريخ الأحداث: | Date Created: 20230724 Date Completed: 20230726 Latest Revision: 20240215 |
| رمز التحديث: | 20240215 |
| مُعرف محوري في PubMed: | PMC10360024 |
| DOI: | 10.3389/fendo.2023.1199590 |
| PMID: | 37484962 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-2392 |
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| DOI: | 10.3389/fendo.2023.1199590 |