PDF(Pubmed)
Abstract：
BACKGROUND: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages.
METHODS: This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin.
CONCLUSIONS: This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.
METHODS: This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin.
CONCLUSIONS: This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.
摘要：
背景：戊二酸尿症II型（GAII），也称为多酰基辅酶A脱氢酶缺乏症（MADD），是一种罕见的常染色体隐性代谢紊乱，表现和发病年龄各不相同。
方法：本研究展示了一个10岁女孩经历了情景剧的独特案例，间歇性呕吐和上腹痛，特别是高脂肪和甜食加重。尽管身体检查和常规实验室检查不确定，最初怀疑是周期性呕吐综合征，在她第三次住院期间，反复出现的症状和代谢异常（代谢性酸中毒和低血糖）的持续存在需要进一步调查。先进的诊断测试，包括尿有机酸分析和基因检测，在ETFDH基因中鉴定出杂合致病变异，确认GAIIc的诊断。患者对定制的低蛋白表现出积极的反应，低脂饮食补充肉碱和核黄素。
结论：该病例强调了与复发相关的诊断挑战，儿科患者的非特异性胃肠道症状，特别是在区分常见的胃肠道疾病和罕见的代谢疾病，如GAII。它强调了考虑广泛的鉴别诊断以增强对类似病例的理解和指导未来医学方法的重要性。
方法：本研究展示了一个10岁女孩经历了情景剧的独特案例，间歇性呕吐和上腹痛，特别是高脂肪和甜食加重。尽管身体检查和常规实验室检查不确定，最初怀疑是周期性呕吐综合征，在她第三次住院期间，反复出现的症状和代谢异常（代谢性酸中毒和低血糖）的持续存在需要进一步调查。先进的诊断测试，包括尿有机酸分析和基因检测，在ETFDH基因中鉴定出杂合致病变异，确认GAIIc的诊断。患者对定制的低蛋白表现出积极的反应，低脂饮食补充肉碱和核黄素。
结论：该病例强调了与复发相关的诊断挑战，儿科患者的非特异性胃肠道症状，特别是在区分常见的胃肠道疾病和罕见的代谢疾病，如GAII。它强调了考虑广泛的鉴别诊断以增强对类似病例的理解和指导未来医学方法的重要性。
