Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome.
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微调婴儿期巴斯综合征患者的 3-甲基戊二酸尿截止值。
DOI：
10.1093/clinchem/hvab167
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发表时间：
2022
影响因子：
9.3
通讯作者：
He,Miao
中科院分区：
文献类型：
--
作者：
Alharbi,Hana;Hong,Xinying;Ritter,Alyssa;Ahrens-Nicklas,Rebecca;Master,StephenR;He,Miao
一名4周大的白人男性表现为发育不良、呼噜声、易怒和进食困难。妊娠并发宫内生长受限和羊水过少;胎儿超声心动图正常。他足月出生，通过了听力测试，新生儿的37种疾病筛查也很正常。家族史是一个重要的原因不明的新生儿死亡的一名男性母亲的堂兄弟一旦删除。胸部X光片表现为心脏肥大。超声心动图显示左心室中度扩张和肥大，射血分数严重降低（13%;正常55%）。实验室检查显示B型利钠肽（BNP）[1868.2 pg/ml;参考区间（RI）：0.0-100.0 pg/ml]和血乳酸（3.8 mmol/L; RI：0.5-2.0 mmol/L）升高。全血细胞计数显示中性粒细胞绝对计数临界偏低，为1160/μL（RI：1108-5450/μL）。肝肾功能检查、血浆氨基酸分析（PAA）、血浆游离和总肉毒碱以及血浆酰基肉毒碱谱结果均正常。尿有机酸分析（UOA）显示3-甲基戊烯二酸（3 MGA）（25 mmol/mol肌酐;正常< 22 mmol/mol肌酐）和3-甲基戊二酸（3 MG）（3.3 mmol/mol肌酐;正常
A 4-week-old Caucasian male presented with failure to thrive, grunting, irritability, and feeding difficulties. The pregnancy was complicated by intrauterine growth restriction and oligohydramnios; fetal echocardiogram was normal. He was born at term, passed his hearing test, and his newborn screening for 37 disorders was unremarkable. The family history was significant for an unexplained neonatal death of a male maternal first cousin once removed.A chest radiograph on presentation showed cardiomegaly. An echocardiogram demonstrated moderate dilation and hypertrophy of the left ventricle with a severely reduced ejection fraction (13%; normal 55%). Laboratory testing showed increased B-type natriuretic peptide (BNP)[1868.2 pg/ml; reference interval (RI): 0.0–100.0 pg/ml] and blood lactic acid (3.8 mmol/L; RI: 0.5–2.0 mmol/L). Complete blood cell counts revealed borderline low absolute neutrophil count at 1160/μL (RI: 1108–5450/μL). Results of liver and renal function tests, plasma amino acids analysis (PAA), plasma free and total carnitine, and plasma acylcarnitine profile were normal. Urine organic acids analysis (UOA) showed borderline increases in 3-methylglutaconic acid (3MGA)(25mmol/mol creatinine; normal< 22 mmol/mol creatinine) and 3-methylglutaric acid (3MG)(3.3 mmol/mol creatinine; normal