Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
BackgroundPyruvate 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 movem...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-07-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1199590/full |
| _version_ | 1797785354649993216 |
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| author | Mei Xue |
| author_facet | Mei Xue |
| author_sort | Mei Xue |
| collection | DOAJ |
| description | BackgroundPyruvate 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 presentationHere, 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.ConclusionTo 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. |
| first_indexed | 2024-03-13T00:52:54Z |
| format | Article |
| id | doaj.art-1d46ed55ab41496b949005e11ac62ec5 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-03-13T00:52:54Z |
| publishDate | 2023-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-1d46ed55ab41496b949005e11ac62ec52023-07-07T08:35:28ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922023-07-011410.3389/fendo.2023.11995901199590Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type BMei XueBackgroundPyruvate 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 presentationHere, 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.ConclusionTo 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.https://www.frontiersin.org/articles/10.3389/fendo.2023.1199590/fullcase reportpyruvate carboxylase deficiencyneurological injurygenetic analysisprenatal diagnosis |
| spellingShingle | Mei Xue Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B Frontiers in Endocrinology case report pyruvate carboxylase deficiency neurological injury genetic analysis prenatal diagnosis |
| title | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B |
| title_full | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B |
| title_fullStr | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B |
| title_full_unstemmed | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B |
| title_short | Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B |
| title_sort | case report prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type b |
| topic | case report pyruvate carboxylase deficiency neurological injury genetic analysis prenatal diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2023.1199590/full |
| work_keys_str_mv | AT meixue casereportprenatalneurologicalinjuryinaneonatewithpyruvatecarboxylasedeficiencytypeb |