Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review
Objective To report the first case of adult late⁃onset propionic acidemia (PA) caused by PCCB gene mutation in China, and summary the clinical and molecular pathological characteristics of patients with late⁃onset propionic acidemia. Methods and Results The clinical manisfestions of an eighteen⁃year...
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2021-04-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/2311 |
| _version_ | 1818728234008707072 |
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| author | XUE Xiu⁃yun DONG Ya⁃ru WANG Jun YOU Feng⁃qiu DI Zheng⁃li LIU Zhi⁃qin |
| author_facet | XUE Xiu⁃yun DONG Ya⁃ru WANG Jun YOU Feng⁃qiu DI Zheng⁃li LIU Zhi⁃qin |
| author_sort | XUE Xiu⁃yun |
| collection | DOAJ |
| description | Objective To report the first case of adult late⁃onset propionic acidemia (PA) caused by PCCB gene mutation in China, and summary the clinical and molecular pathological characteristics of patients with late⁃onset propionic acidemia. Methods and Results The clinical manisfestions of an eighteen⁃year⁃old male patient were acute onset of symmetrical injury at bilateral basal ganglia which induced metabolic encephalopathy with involuntury movement. Tandem mass spectrometry (MS/MS) test results of dried blood spots indicated that propionyl carnitine (C3) was 10.37 μmol/L, and the ratio of propionyl carnitine to acetyl carnitine (C3/C2) was 0.69. Gas chromatography⁃mass spectrometry (GC/MS) test results indicated urine 3⁃hydroxypropionic acid was 18 μmol/L, methyl citrate level was 12.70 μmol/L. The gene results detected a homozygous pathogenic mutation (exon 10: c.1087T＞C, p.Ser363Pro) in the PCCB gene. His parents had a heterozygous mutation in PCCB gene exon 10 c.1087T＞C (p.Ser363Pro), which was consistent with the phenomenon of family co⁃segregation, and the mutation site was consistent with a suspected pathogenic variant. The final molecular pathological diagnosis was late⁃onset propionic acidemia. Following the protein restriction diet, high⁃dose L⁃carnitine injection, and ammonia⁃lowering treatment, the dried blood spots propionic acid level and the urine 3⁃hydroxypropionic acid level decreased significantly. Conclusions The mutation exon c.1087T＞C (p.Ser363Pro) is a rare and highly suspected pathogenic mutation of PCCB gene. MS/MS and GC/MS detection combined with whole exome sequencing technology is very important in the diagnosis of late⁃onset propionic acidemia.
doi:10.3969/j.issn.1672⁃6731.2021.04.010 |
| first_indexed | 2024-12-17T22:26:45Z |
| format | Article |
| id | doaj.art-e09114276627454e9b16caa27248f61b |
| institution | Directory Open Access Journal |
| issn | 1672-6731 1672-6731 |
| language | English |
| last_indexed | 2024-12-17T22:26:45Z |
| publishDate | 2021-04-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-e09114276627454e9b16caa27248f61b2022-12-21T21:30:19ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67311672-67312021-04-012104289295doi:10.3969/j.issn.1672⁃6731.2021.04.010Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature reviewXUE Xiu⁃yun0DONG Ya⁃ru1WANG Jun2YOU Feng⁃qiu3 DI Zheng⁃li4LIU Zhi⁃qin5Department of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaDepartment of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaDepartment of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaDepartment of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaDepartment of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaDepartment of Neurology, Xi'an Central Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710003, Shaanxi, ChinaObjective To report the first case of adult late⁃onset propionic acidemia (PA) caused by PCCB gene mutation in China, and summary the clinical and molecular pathological characteristics of patients with late⁃onset propionic acidemia. Methods and Results The clinical manisfestions of an eighteen⁃year⁃old male patient were acute onset of symmetrical injury at bilateral basal ganglia which induced metabolic encephalopathy with involuntury movement. Tandem mass spectrometry (MS/MS) test results of dried blood spots indicated that propionyl carnitine (C3) was 10.37 μmol/L, and the ratio of propionyl carnitine to acetyl carnitine (C3/C2) was 0.69. Gas chromatography⁃mass spectrometry (GC/MS) test results indicated urine 3⁃hydroxypropionic acid was 18 μmol/L, methyl citrate level was 12.70 μmol/L. The gene results detected a homozygous pathogenic mutation (exon 10: c.1087T＞C, p.Ser363Pro) in the PCCB gene. His parents had a heterozygous mutation in PCCB gene exon 10 c.1087T＞C (p.Ser363Pro), which was consistent with the phenomenon of family co⁃segregation, and the mutation site was consistent with a suspected pathogenic variant. The final molecular pathological diagnosis was late⁃onset propionic acidemia. Following the protein restriction diet, high⁃dose L⁃carnitine injection, and ammonia⁃lowering treatment, the dried blood spots propionic acid level and the urine 3⁃hydroxypropionic acid level decreased significantly. Conclusions The mutation exon c.1087T＞C (p.Ser363Pro) is a rare and highly suspected pathogenic mutation of PCCB gene. MS/MS and GC/MS detection combined with whole exome sequencing technology is very important in the diagnosis of late⁃onset propionic acidemia. doi:10.3969/j.issn.1672⁃6731.2021.04.010http://www.cjcnn.org/index.php/cjcnn/article/view/2311propionic acidemiagenesmutationmass spectrometrypathology molecular |
| spellingShingle | XUE Xiu⁃yun DONG Ya⁃ru WANG Jun YOU Feng⁃qiu DI Zheng⁃li LIU Zhi⁃qin Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review Chinese Journal of Contemporary Neurology and Neurosurgery propionic acidemia genes mutation mass spectrometry pathology molecular |
| title | Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review |
| title_full | Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review |
| title_fullStr | Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review |
| title_full_unstemmed | Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review |
| title_short | Molecular pathology report of late ⁃ onset propionic acidemia in adults: one case report and literature review |
| title_sort | molecular pathology report of late ⁃ onset propionic acidemia in adults one case report and literature review |
| topic | propionic acidemia genes mutation mass spectrometry pathology molecular |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/2311 |
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