Propionic Acidemia(丙酸血症)研究综述
Propionic Acidemia 丙酸血症 - OBJECTIVE To detect pathogenic variants in a pedigree affected with propionic acidemia (PA). [1] Investigated by two common IMDs (methylmalonic acidemia and propionic acidemia), GC-MS allowed the detection of a rich profile of metabolites, characterizing subtle differences between disease and healthy control groups. [2] Of the 7 patients who required intensive care, 2 had cerebral palsy, 1 had hydrocephaly+shunt, 1 had metabolic disease (propionic acidemia), 2 had a history of trauma (struck by a motor vehicle), and in 1 there was no comorbidity. [3] Propionic acidemia is a rare genetic disorder of metabolism that predisposes patients to metabolic acidosis, lethargy, neurologic dysfunction, developmental delays, and cardiomyopathy. [4] In contrast, MCA was high only in 5% of the acquired conditions versus in 53% of the genetic disorders, and it was always very high in all patients with propionic acidemia. [5] Propionic acidemia (PA) is an inborn error of metabolism (IEM) caused by mutations in the enzyme propionyl CoA carboxylase (PCC). [6] Here, we report two patients with underlying metabolic disorders, propionic acidemia and glutaric aciduria type 1, and discuss their clinical presentation, as well as their infectious and metabolic management. [7] To improve the accuracy of variant interpretation in public mutation repositories, we applied the minigene splicing assay to study the effects of 24 variants that were predicted to affect normal splicing in the genes associated with propionic acidemia (PA)—PCCA and PCCB. [8] Results Twenty-one patients, consisting of eleven patients with methylmalonic acidemia (MMA) and ten patients with propionic acidemia (PA) were eligible for the study. [9] Propionic acidemia (PA), one of the most frequent life-threatening organic acidemias, is caused by mutations in either the PCCA or PCCB genes encoding both subunits of the mitochondrial propionyl-CoA carboxylase (PCC) enzyme. [10] Propionic acidemia (PA) is a disorder of organic acid metabolism which typically presents with acute encephalopathy-like symptoms associated with metabolic acidosis and hyperammonemia during the neonatal period. [11] Propionic acidemia is an inborn error of metabolism characterized by accumulation of propionic acid due to deficiency of propionyl-CoA carboxylase. [12] Propionic acidemia (PA) is a rare, multi-systemic inborn error of metabolism. [13] Purpose To conduct a proof-of-principle study to identify subtypes of propionic acidemia (PA) and associated biomarkers. [14] Results: According to the data set, four diseases occurred most frequently in the Saudi population: Adrenal hyperplasia, Propionic acidemia, Phenylketonuria, and Maple syrup urine disease. [15] In terms of metabolic decompensation, two patients diagnosed with propionic acidemia, one patient with methylmalonic acidemia and one patient with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency presented clinical and biochemical findings of an acute metabolic attack. [16] Propionic acidemia (PROP) is an autosomal recessive inherited deficiency of propionyl‐CoA carboxylase (PCC) which is involved in the catalytic breakdown of the amino acids valine, isoleucine, methionine, and threonine. [17] Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA) are inborn errors of metabolism affecting the catabolism of valine, isoleucine, methionine, threonine and odd-chain fatty acids. [18] Analytical and clinical performance were evaluated in 53 newborns with methylmalonic acidemia (MMA) or propionic acidemia (PA) reported by the Xuzhou Maternity and Child Health Care Hospital NBS program. [19] Results and discussion In this study, two patients with methylmalonic aciduria (MMA), two with propionic acidemia (PPA), one with fatty acid oxidation disorder (FAOD), and one with hyperornithinemia, gyrate atrophy, and juvenile onset diabetes mellitus (DM) were clinically followed for up to 10 – 21 years. [20] Propionic acidemia is associated with pathogenic variants in PCCA or PCCB gene. [21] Propionic acidemia (PA) is a rare, multi-systemic inborn error of metabolism. [22] Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. [23] Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. [24] Long-term dietary management of Propionic acidemia (PA) includes natural protein restriction, and supplementation with medical formula enriched with leucine (Leu) and free of valine (Val), isoleucine (Ileu), methionine (Met), and threonine (Thr). [25] Propionic acidemia (PA) is a rare metabolic disease associated with mutations in genes encoding the α and β subunits of the enzyme propionyl-CoA carboxylase. [26] Although, inborn errors of metabolisms (IEMs) usually present with hypoglycemic ketoacidosis but there are several IEMs which may have hyperglycemic ketoacidosis namely organic acidemia [methylmalonic acidemia (MMA), propionic acidemia (PA), isovaleric academia], βketothiolase deficiency, thiamine-responsive megaloblastic anemia, mitochondrial respiratory chain disorders, and holocarboxylase synthetase deficiency [2, 3]. [27] PurposePropionic acidemia (PA) is a severe metabolic disorder characterized by multiorgan pathology, including renal disease. [28] Despite realizing increased survival rates for propionic acidemia (PA) and methylmalonic acidemia (MMA) patients, the current therapeutic regimen is inadequate for preventing or treating the devastating complications that still can occur. [29] ABSTRACT Introduction: Propionic acidemia (PA) is a metabolic genetic disease that occurs in 1 in 100,000 live births in United States and up to 1 in 3,000 in certain populations. [30] Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. [31] Several metabolic disorders are related to rhabdomyolysis, but their association with methylmalonic acidemia (MMA) and propionic acidemia (PA) is unclear. [32] OBJECTIVES Elevated levels of metabolites such as ammonia and propionylcarnitine in propionic acidemia (PA) lead to an increased reactive oxygen species (ROS) production which could activate and stabilize the epigenetic regulated hypoxia-inducible factor-1α (HIF-1α). [33] Maleic acid (MA), which has been reported to be highly excreted in propionic acidemia (PAcidemia), was demonstrated to cause nephropathy by bioenergetics impairment and oxidative stress, but the effects on kidney mitochondrial respiration has not yet been properly investigated. [34] 9%], propionic acidemia (PPA) [2, 5. [35] Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. [36] The underlying aetiologies being propionic acidemia (PA)-5, citrullinemia type 1 (CIT1)-3 and Crigler-Najjar syndrome type 1 (CN1)-5 cases respectively. [37] Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. [38] BACKGROUND Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000-130,000 in the United States. [39] BackgroundMethylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. [40] We thank Rammohan et cols for the comment on our paper entitled "The Role of Liver Transplantation in Propionic Acidemia". [41] OBJECTIVES Propionic Acidemia (PA) is a rare inborn error of metabolism resulting from deficiency in the enzyme necessary for catabolism of branched-chain amino acids, some odd chain fatty acids and cholesterol. [42] This diagnostic approach allowed the diagnosis, treatment and survival of 4 neonates (maple syrup urine disease, propionic acidemia, carnitine-acylcarnitine translocase deficiency and type 1 tyrosinemia). [43] Patients with methylmalonic acidemias (MMAs) and propionic acidemias (PAs) were noticed to suffer recurrent infections with high morbidity and mortality during infections. [44] BackgroundMost patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. [45] In this study, we reported 2 patients genetically diagnosed with propionic acidemia (PA) went through living-donor liver transplantation (LDLT), and monitoring the change of Gcf-DNA examined by the amplification refractory mutation system polymerase chain reaction (ARMS-PCR) method. [46] Propionic acidemia (PA) is an inborn metabolic error characterized by the accumulation of propionic acid due to deficiency of propionyl-CoA carboxylase (PCC). [47] BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are related disorders of mitochondrial propionate metabolism, caused by defects in methylmalonyl-CoA mutase (MUT) and propionyl-CoA carboxylase (PCC), respectively. [48] A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c. [49] Metabolic strokes are a notable feature associated with acute catabolic crises in patients with propionic acidemia. [50]客观的 检测受丙酸血症 (PA) 影响的家系中的致病变异。 [1] 通过两种常见的 IMD（甲基丙二酸血症和丙酸血症）的研究，GC-MS 可以检测到丰富的代谢物谱，表征疾病组和健康对照组之间的细微差异。 [2] 需要重症监护的7例患者中，脑瘫2例，脑积水+分流1例，代谢性疾病（丙酸血症）1例，有外伤史（机动车撞击）2例，无合并症1例. [3] 丙酸血症是一种罕见的遗传代谢疾病，使患者易患代谢性酸中毒、嗜睡、神经功能障碍、发育迟缓和心肌病。 [4] 相比之下，MCA 仅在 5% 的获得性疾病中较高，而在 53% 的遗传疾病中较高，并且在所有丙酸血症患者中始终很高。 [5] 丙酸血症 (PA) 是由丙酰辅酶 A 羧化酶 (PCC) 突变引起的先天性代谢错误 (IEM)。 [6] 在这里，我们报告了两名患有潜在代谢疾病、丙酸血症和 1 型戊二酸尿症的患者，并讨论了他们的临床表现，以及他们的感染和代谢管理。 [7] 为了提高公共突变库中变异解释的准确性，我们应用小基因剪接分析来研究 24 个变异的影响，这些变异预计会影响与丙酸血症 (PA) 相关的基因（PCCA 和 PCCB）中的正常剪接。 [8] 结果 21 名患者，包括 11 名甲基丙二酸血症 (MMA) 患者和 10 名丙酸血症 (PA) 患者，符合研究条件。 [9] 丙酸血症 (PA) 是最常见的危及生命的有机酸血症之一，是由编码线粒体丙酰辅酶 A 羧化酶 (PCC) 酶的两个亚基的 PCCA 或 PCCB 基因突变引起的。 [10] 丙酸血症（Propionic acidemia，PA）是一种有机酸代谢紊乱，在新生儿期通常表现为与代谢性酸中毒和高氨血症相关的急性脑病样症状。 [11] 丙酸血症是一种先天性代谢错误，其特征是由于丙酰辅酶A羧化酶缺乏导致丙酸积累。 [12] 丙酸血症 (PA) 是一种罕见的多系统先天性代谢错误。 [13] 目的进行原理验证研究以确定丙酸血症 (PA) 的亚型和相关的生物标志物。 [14] 结果：根据数据集，沙特人群中最常见的四种疾病是：肾上腺增生症、丙酸血症、苯丙酮尿症和枫糖尿症。 [15] 在代谢失代偿方面，两名诊断为丙酸血症的患者、一名甲基丙二酸血症的患者和一名 3-羟基-3-甲基戊二酰-CoA 裂解酶缺乏症的患者出现了急性代谢发作的临床和生化表现。 [16] 丙酸血症 (PROP) 是丙酰辅酶 A 羧化酶 (PCC) 的常染色体隐性遗传缺陷，其参与氨基酸缬氨酸、异亮氨酸、蛋氨酸和苏氨酸的催化分解。 [17] 丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 是先天性代谢错误，影响缬氨酸、异亮氨酸、蛋氨酸、苏氨酸和奇数链脂肪酸的分解代谢。 [18] 对徐州妇幼保健院 NBS 项目报告的 53 名甲基丙二酸血症 (MMA) 或丙酸血症 (PA) 新生儿的分析和临床表现进行了评估。 [19] 结果与讨论 在本研究中，2 例甲基丙二酸尿症（MMA）患者，2 例丙酸血症（PPA）患者，1 例脂肪酸氧化障碍（FAOD）患者，1 例高鸟氨酸血症、旋转萎缩和幼年型糖尿病（DM）患者临床随访长达 10 - 21 年。 [20] 丙酸血症与 PCCA 或 PCCB 基因的致病变异有关。 [21] 丙酸血症 (PA) 是一种罕见的多系统先天性代谢错误。 [22] 丙酸血症（PA）是一种由丙酰辅酶A羧化酶缺乏引起的遗传性疾病。 [23] 甲基丙二酸和丙酸血症诊断和管理的建议指南。 [24] 丙酸血症 (PA) 的长期饮食管理包括限制天然蛋白质，并补充富含亮氨酸 (Leu) 且不含缬氨酸 (Val)、异亮氨酸 (Ileu)、蛋氨酸 (Met) 和苏氨酸 (Thr) 的医学配方. [25] 丙酸血症 (PA) 是一种罕见的代谢疾病，与编码丙酰辅酶 A 羧化酶的 α 和 β 亚基的基因突变有关。 [26] 虽然先天性代谢异常 (IEM) 通常表现为低血糖酮症酸中毒，但也有几种 IEM 可能出现高血糖酮症酸中毒，即有机酸血症 [甲基丙二酸血症 (MMA)、丙酸血症 (PA)、异戊酸中毒]、β-酮硫解酶缺乏症、硫胺素反应性巨幼细胞性贫血、线粒体呼吸链障碍和全羧化酶合成酶缺乏症 [2, 3]。 [27] 目的丙酸血症（PA）是一种以多器官病理为特征的严重代谢疾病，包括肾脏疾病。 [28] 尽管提高了丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 患者的存活率，但目前的治疗方案不足以预防或治疗仍可能发生的破坏性并发症。 [29] 摘要 简介：丙酸血症 (PA) 是一种代谢性遗传疾病，在美国每 100,000 名活产婴儿中就有 1 人发生，在某些人群中高达 3,000 人中有 1 人发生。 [30] 在过去的几十年中，丙酸血症 (PA) 和孤立性甲基丙二酸血症 (MMA) 患者的临床护理取得了进展，从而提高了生存率。 [31] 几种代谢紊乱与横纹肌溶解症有关，但它们与甲基丙二酸血症 (MMA) 和丙酸血症 (PA) 的关系尚不清楚。 [32] 目标 丙酸血症 (PA) 中氨和丙酰肉碱等代谢物水平升高会导致活性氧 (ROS) 产生增加，从而激活和稳定表观遗传调节的缺氧诱导因子-1α (HIF-1α)。 [33] 据报道，马来酸 (MA) 在丙酸血症 (PAcidemia) 中被大量排泄，已被证明可通过生物能量学受损和氧化应激引起肾病，但尚未适当研究其对肾脏线粒体呼吸的影响。 [34] 9%], 丙酸血症 (PPA) [2, 5. [35] 新生儿丙酸血症 (PA) 和孤立性甲基丙二酸血症 (MMA) 筛查 (NBS) 有效性的证据很少。 [36] 潜在的病因分别是丙酸血症 (PA)-5、瓜氨酸血症 1 型 (CIT1)-3 和 Crigler-Najjar 综合征 1 型 (CN1)-5 病例。 [37] 尽管通常认为患有丙酸血症 (PA) 的阿米什血统的个体具有较轻的疾病表型，但我们现在对这一人群中 PA 的自然史有了更好的了解。 [38] 背景 丙酸血症 (PA) 是一种常染色体隐性遗传代谢疾病，在美国的发病率估计为 1:105,000-130,000。 [39] 背景甲基丙二酸血症（MMA）和丙酸血症（PA）是由先天性代谢异常引起的两种疾病。 [40] 我们感谢 Rammohan 等人对我们题为“肝移植在丙酸血症中的作用”的论文的评论。 [41] 目标 丙酸血症 (PA) 是一种罕见的先天性代谢错误，由支链氨基酸、一些奇数链脂肪酸和胆固醇分解代谢所必需的酶缺乏引起。 [42] 这种诊断方法允许 4 名新生儿的诊断、治疗和存活（枫糖尿症、丙酸血症、肉碱-酰基肉碱转位酶缺乏症和 1 型酪氨酸血症）。 [43] 甲基丙二酸血症 (MMA) 和丙酸血症 (PAs) 患者在感染期间会遭受反复感染，且发病率和死亡率都很高。 [44] 背景大多数在新生儿期出现急性代谢窘迫的孤立性甲基丙二酸血症（MMA）/丙酸血症（PA）患者有死亡和严重神经发育障碍的风险。 [45] 在这项研究中，我们报告了 2 例基因诊断为丙酸血症 (PA) 的患者接受了活体肝移植 (LDLT)，并通过扩增难治突变系统聚合酶链反应 (ARMS-PCR) 监测 Gcf-DNA 的变化方法。 [46] 丙酸血症（PA）是一种先天性代谢错误，其特征是由于丙酰辅酶A羧化酶（PCC）缺乏导致丙酸积累。 [47] 背景 甲基丙二酸血症（MMA）和丙酸血症（PA）是线粒体丙酸代谢的相关疾病，分别由甲基丙二酰辅酶A变位酶（MUT）和丙酰辅酶A羧化酶（PCC）缺陷引起。 [48] 人类诱导多能干细胞 (iPSC) 系是由一名丙酸血症患者的成纤维细胞产生的，该患者具有纯合突变 (c. [49] 代谢性卒中是与丙酸血症患者急性分解代谢危机相关的一个显着特征。 [50]
rare autosomal recessive 罕见的常染色体隐性遗传
Propionic acidemia (PA) is a rare autosomal recessive disorder with an estimated incidence of 1:100,000 live births in the general population. [1] Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). [2] Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. [3] Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive disorders of propionyl-CoA (P-CoA) catabolism, caused by a deficiency in the enzymes P-CoA carboxylase and methylmalonyl-CoA (M-CoA) mutase, respectively. [4] Propionic acidemia is a rare autosomal recessive disorder caused by a mutation in propionyl-CoA carboxylase, afflicting 1:100 000 individuals, with higher incidence in Arabs and the American Amish. [5] Propionic acidemia or propionic aciduria, is a rare autosomal recessive inherited metabolic disease. [6] IntroductionPropionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. [7]丙酸血症 (PA) 是一种罕见的常染色体隐性遗传疾病，在一般人群中估计有 1:100,000 的活产儿发生率。 [1] 丙酸血症 (PA) 是一种罕见的常染色体隐性遗传先天性代谢异常 (IEM)，在阿拉伯联合酋长国 (UAE) 的患病率相对较高。 [2] 背景丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 是罕见的常染色体隐性先天性代谢错误，需要终生药物治疗。 [3] nan [4] 丙酸血症是一种罕见的常染色体隐性遗传疾病，由丙酰辅酶A羧化酶突变引起，影响 1:100 000 人，在阿拉伯人和美国阿米什人中发病率较高。 [5] 丙酸血症或丙酸尿症，是一种罕见的常染色体隐性遗传代谢病。 [6] nan [7]
mitochondrial enzyme propionyl
Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. [1] Propionic acidemia is an infrequent disorder with an autosomal recessive inheritance pattern caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase that converts propionyl-CoA to D-methylmalonyl-CoA. [2] Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC 6. [3] Cardiac alterations (hypertrophic/dilated cardiomyopathy, and rhythm alterations) are one of the major causes of mortality and morbidity in propionic acidemia (PA), caused by the deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC), involved in the catabolism of branched-chain amino acids, cholesterol, and odd-chain fatty acids. [4]丙酸血症 (PA) 是一种罕见的有机酸血症，由线粒体酶丙酰辅酶 A 羧化酶缺乏引起。 [1] 丙酸血症是一种罕见的疾病，具有常染色体隐性遗传模式，由将丙酰辅酶A转化为D-甲基丙二酰辅酶A的线粒体酶丙酰辅酶A羧化酶缺乏引起。 [2] nan [3] nan [4]
autosomal recessive metabolic 常染色体隐性代谢
BACKGROUND AND AIMS Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by a deficiency of propionyl-CoA carboxylase and mutations in the PCCA and PCCB genes. [1] Propionic acidemia (PA) is an autosomal recessive metabolic disorder after gene encoding propionyl-CoA carboxylase, Pcca or Pccb, is mutated. [2]背景和目的 丙酸血症 (PA) 是一种常染色体隐性遗传代谢疾病，由丙酰辅酶 A 羧化酶缺乏和 PCCA 和 PCCB 基因突变引起。 [1] 丙酸血症 (PA) 是编码丙酰辅酶 A 羧化酶 Pcca 或 Pccb 的基因发生突变后的常染色体隐性遗传代谢疾病。 [2]
Background Propionic Acidemia 背景丙酸血症
Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. [1] Background Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. [2]背景丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 是罕见的常染色体隐性先天性代谢错误，需要终生药物治疗。 [1] 背景丙酸血症 (PA) 是一种先天性代谢错误，是由丙酰辅酶 A 羧化酶缺乏引起的。 [2]