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JIMD Rep. 2016;30:15-22. doi: 10.1007/8904_2016_531. Epub 2016 Feb 27.
2
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J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032.
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Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y.

本文引用的文献

1
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.合并型丙二酸和甲基丙二酸尿症与 ACSF3 基因突变相关：未经选择队列中的良性临床病程。
J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032.
2
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.干血斑中甲基丙二酸和总同型半胱氨酸分析的适用性。
Anal Chim Acta. 2015 Jan 1;853:435-441. doi: 10.1016/j.aca.2014.10.043. Epub 2014 Oct 31.
3
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.分析加利福尼亚州州数据库中报告的加利福尼亚新生儿筛查计划中 3-甲基戊烯酰辅酶 A 羧化酶缺乏症（3-MCCD）病例。
Mol Genet Metab. 2013 Dec;110(4):477-83. doi: 10.1016/j.ymgme.2013.09.006. Epub 2013 Sep 17.
4
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.外显子组测序鉴定 ACSF3 为丙二酸和甲基丙二酸尿症的致病基因。
Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.
5
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.合并型丙二酸和甲基丙二酸尿症：外显子组测序在非典型表型患者中发现 ACSF3 基因突变。
J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.
6
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.串联质谱新生儿遗传代谢病筛查中截断值目标范围的临床验证：一项世界性的合作项目。
Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.
7
Development and validation of a quantitative assay based on tandem mass spectrometry.基于串联质谱法的定量检测方法的建立与验证。
Ann Clin Biochem. 2011 Mar;48(Pt 2):97-111. doi: 10.1258/acb.2010.010176. Epub 2011 Feb 8.
8
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.114例短链酰基辅酶A脱氢酶（SCAD）缺乏症患者的ACADS基因变异谱以错义变异为主，这些变异导致细胞水平上的蛋白质错误折叠。
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9
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.一例丙二酰辅酶A脱羧酶缺乏症患者的脑部异常
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CMAMMA中快速代谢诊断的新方法。

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

作者信息

de Sain-van der Velden Monique G M, van der Ham Maria, Jans Judith J, Visser Gepke, Prinsen Hubertus C M T, Verhoeven-Duif Nanda M, van Gassen Koen L I, van Hasselt Peter M

机构信息

Department of Medical Genetics, UMC Utrecht, 85090, 3508AB, Utrecht, The Netherlands.

Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

出版信息

JIMD Rep. 2016;30:15-22. doi: 10.1007/8904_2016_531. Epub 2016 Feb 27.

DOI:10.1007/8904_2016_531
PMID:26915364
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5110436/
Abstract

BACKGROUND

The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Detection of MA in urine, however, is challenging since excretion of MA can be easily missed. The objective of the study was to develop a method for quantification of MA in plasma to allow differentiation between CMAMMA and classic MMAemia.

METHODS

Compound heterozygosity for mutations in the ACSF3 gene was detected in two female siblings using diagnostic exome sequencing. Urine (MMA and MA) was analyzed with GC/MS, while plasma was analyzed with UPLC-MS/MS. MA/MMA ratios were calculated.

RESULTS

Both patients had a severe psychiatric presentation (at the age of 6 years and 5.5 years, respectively) after a viral infection. MA excretion in the patients was only just above the highest control value in several samples. MA concentrations in plasma from the two patients were clearly above the highest value observed in control subjects. However, MA concentrations in plasma from patients with classic MMAemia were also elevated. Additional, calculation of MA/MMA ratio in plasma allowed to fully differentiate between CMAMMA and classic MMAemia.

CONCLUSIONS

Calculating the MA/MMA ratio in plasma allows differentiation between CMAMMA and classic MMAemia. The full clinical spectrum of CMAMMA remains to be delineated.

摘要

背景

尿中甲基丙二酸（MMA）和丙二酸（MA）浓度升高被认为可将因ACSF3基因突变导致的丙二酸和甲基丙二酸联合尿症（CMAMMA）与甲基丙二酸尿症的其他病因（经典甲基丙二酸血症）区分开来。然而，尿中MA的检测具有挑战性，因为MA的排泄很容易被遗漏。本研究的目的是开发一种定量血浆中MA的方法，以区分CMAMMA和经典甲基丙二酸血症。

方法

使用诊断性外显子组测序在两名女性同胞中检测到ACSF3基因突变的复合杂合性。尿样（MMA和MA）用气相色谱/质谱法分析，血浆用超高效液相色谱-串联质谱法分析。计算MA/MMA比值。

结果

两名患者在病毒感染后均出现严重精神症状（分别为6岁和5.5岁）。患者的MA排泄量仅在几个样本中略高于最高对照值。两名患者血浆中的MA浓度明显高于对照受试者中观察到的最高值。然而，经典甲基丙二酸血症患者血浆中的MA浓度也有所升高。此外，计算血浆中的MA/MMA比值可完全区分CMAMMA和经典甲基丙二酸血症。

结论

计算血浆中的MA/MMA比值可区分CMAMMA和经典甲基丙二酸血症。CMAMMA的完整临床谱仍有待描绘。