PDF(Pubmed)
Abstract：
UNASSIGNED: Propionic acidemia (PA) is an inherited autosomal recessive metabolic disorder that is classified as early-onset or late-onset, depending on the onset time of clinical symptoms. It clinically manifests as numerous lesions in the brain, pancreas, liver, and muscle. Muscle biopsies show myopathic changes, which help to distinguish late-onset propionic acidemia from other metabolic diseases involving muscles.
UNASSIGNED: A 19-year-old Chinese girl was admitted to the hospital because of poor eating and fatigue. Head magnetic resonance imaging suggested metabolic diseases, and we administered symptomatic support treatment. Her symptoms gradually worsened, and she began to show convulsions and disturbances of consciousness. Muscle pathology showed myopathy-like changes. The presence of organic acids in the blood and urine suggested PA. Genetic analyses identified two compound heterozygous mutations in the patient\'s PCCB gene, confirming the diagnosis of delayed PA.
UNASSIGNED: The muscle pathological examination of late-onset PA provides valuable information that is helpful for distinguishing delayed-onset PA from metabolic diseases. In the absence of a history of trauma, subdural hematoma may be a very rare complication of late-onset PA and can be regarded as a poor prognostic sign; therefore, it is suggested to perform head computed tomography as part of the routine neurological evaluation of PA patients.
UNASSIGNED: A 19-year-old Chinese girl was admitted to the hospital because of poor eating and fatigue. Head magnetic resonance imaging suggested metabolic diseases, and we administered symptomatic support treatment. Her symptoms gradually worsened, and she began to show convulsions and disturbances of consciousness. Muscle pathology showed myopathy-like changes. The presence of organic acids in the blood and urine suggested PA. Genetic analyses identified two compound heterozygous mutations in the patient\'s PCCB gene, confirming the diagnosis of delayed PA.
UNASSIGNED: The muscle pathological examination of late-onset PA provides valuable information that is helpful for distinguishing delayed-onset PA from metabolic diseases. In the absence of a history of trauma, subdural hematoma may be a very rare complication of late-onset PA and can be regarded as a poor prognostic sign; therefore, it is suggested to perform head computed tomography as part of the routine neurological evaluation of PA patients.
摘要：
未经证实：丙酸血症（PA）是一种遗传性常染色体隐性代谢紊乱，分为早发性或晚发性，取决于临床症状的发作时间。它在临床上表现为大脑中的许多病变，胰腺,肝脏,和肌肉。肌肉活检显示肌病改变,这有助于区分迟发性丙酸血症与其他涉及肌肉的代谢疾病。
未经证实：一名19岁的中国女孩因饮食不良和疲劳入院。头部磁共振成像提示代谢性疾病，我们进行了对症支持治疗。她的症状逐渐恶化，她开始表现出抽搐和意识障碍。肌肉病理示肌病样改变。血液和尿液中有机酸的存在提示PA。遗传分析确定了患者PCCB基因中的两个复合杂合突变，确认延迟PA的诊断。
UNASSIGNED：晚发性PA的肌肉病理学检查提供了有价值的信息，有助于区分延迟性PA与代谢疾病。在没有创伤史的情况下，硬膜下血肿可能是晚发性PA的一种非常罕见的并发症，可被视为预后不良的体征；建议进行头部计算机断层扫描,作为PA患者常规神经系统评估的一部分.
未经证实：一名19岁的中国女孩因饮食不良和疲劳入院。头部磁共振成像提示代谢性疾病，我们进行了对症支持治疗。她的症状逐渐恶化，她开始表现出抽搐和意识障碍。肌肉病理示肌病样改变。血液和尿液中有机酸的存在提示PA。遗传分析确定了患者PCCB基因中的两个复合杂合突变，确认延迟PA的诊断。
UNASSIGNED：晚发性PA的肌肉病理学检查提供了有价值的信息，有助于区分延迟性PA与代谢疾病。在没有创伤史的情况下，硬膜下血肿可能是晚发性PA的一种非常罕见的并发症，可被视为预后不良的体征；建议进行头部计算机断层扫描,作为PA患者常规神经系统评估的一部分.
