Mobarak Amira, Dawoud Heba, Mokhtar Wesam A, Sadek Abdelrahim A, Bebars Gihan Mohamed, Othman Amr Ahmed, Magdy Rofaida M, Nofal Hanaa, Zoair Amr
Medical Biochemical Diseases Division, Pediatrics Department, Faculty of Medicine, Tanta University, Egypt.
Pediatrics Department, Faculty of Medicine, Zagazig University, Egypt.
Int J Pediatr. 2020 Nov 21;2020:7653716. doi: 10.1155/2020/7653716. eCollection 2020.
PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. . This is a retrospective review of 20 patients with PA ( = 10) and MMA ( = 10). The most observed symptoms were vomiting (85%) and refusing feeding (70%). Ammonia was 108.75 ± 9.3 mol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap. Peak ammonia did not correlate with age of onset ( = 0.11 and = 0.64) or age at diagnosis ( = 0.39 and = 0.089), nor did pH ( = 0.01, = 0.96; = -0.25, = 0.28) or bicarbonate ( = 0.07, = 0.76; = -0.22, = 0.34). There was no correlation between ammonia and C3 : C2 ( = 0.1 and = 0.96) or C3 ( = 0.23 and = 0.32). The glycine was 386 ± 167.1 mol/l, and it was higher in PA ( = 0.003). There was a positive correlation between glycine and both pH ( = 0.56 and = 0.01) and HCO ( = 0.49 and = 0.026). There was no correlation between glycine and ammonia ( = -0.435 and = 0.055) or lactate ( = 0.32 and = 0.160). . Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation. Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.
丙酸血症（PA）和甲基丙二酸血症（MMA）有许多非特异性表现，可能导致诊断延迟或误诊。在本文中，我们呈现了MMA和PA患者初诊时的临床和生化特征。 这是一项对20例PA患者（n = 10）和MMA患者（n = 10）的回顾性研究。最常见的症状是呕吐（85%）和拒食（70%）。血氨为108.75±9.3μmol/l，与pH值和碳酸氢根呈负相关，与乳酸和阴离子间隙呈正相关。血氨峰值与发病年龄（r = 0.11，P = 0.64）或诊断年龄（r = 0.39，P = 0.089）均无相关性，pH值（r = 0.01，P = 0.96；r = -0.25，P = 0.28）或碳酸氢根（r = 0.07，P = 0.76；r = -0.22，P = 0.34）也无相关性。血氨与C3∶C2（r = 0.1，P = 0.96）或C3（r = 0.23，P = 0.32）无相关性。甘氨酸为386±167.1μmol/l，在PA患者中更高（P = 0.003）。甘氨酸与pH值（r = 0.56，P = 0.01）和HCO（r = 0.49，P = 0.026）均呈正相关。甘氨酸与血氨（r = -0.435，P = 0.055）或乳酸（r = 0.32，P = 0.160）无相关性。 尽管呕吐和拒食可能是失代偿的标志，但PA和MMA的临床表现是非特异性的。血气、乳酸和血氨水平也是失代偿的良好预测指标，不过甘氨酸水平升高可能并不表明代谢不稳定。
