Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS

Inoue, Yoshito; Ohse, Morimasa; Shinka, Toshikatsu; Kuhara, Tomiko

doi:10.1016/j.jchromb.2008.02.022

Cited by 11 publications

(6 citation statements)

References 11 publications

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“…Most of the metabolites tested did not show conspicuous variations with gestational age in normal fetuses (Table 1). Levels were consistently similar to previous studies that reported reference values from samples pooled for gestational age ((Kumps et al, 2004;Hasegawa et al, 2005;Morel et al, 2005;Inoue et al, 2008;Zhang et al, 2008, and references therein); however, we note some unexplained discrepancies between the reference values from all these works, including ours, and another study (Baggot et al, 2008). Selected results are discussed next, in relation to several conditions of interest for prenatal diagnosis.…”

Section: Resultssupporting

confidence: 90%

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Gestational age‐related reference values for amniotic fluid organic acids

et al. 2009

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Most of the metabolites tested did not show conspicuous variations across gestational ages in normal fetuses, with ranges that were consistently similar to available reference values from pooled samples in previous reports. With rare exceptions, knowledge of pathological versus normal values for relevant metabolites leads to clear-cut differentiation of affected versus unaffected fetuses. Nevertheless, it is strongly recommended that mutational analysis and/or additional biochemical approaches complement organic acid analysis for an adequate diagnostic workup.

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Section: Resultssupporting

confidence: 90%

“…In AF, methylcitric acid is reliably increased in association with the disease (e.g. Buchanan et al, 1980;Kumps et al, 2004;Perez-Cerda et al, 2004;Hasegawa et al, 2005;Inoue et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Gestational age‐related reference values for amniotic fluid organic acids

et al. 2009

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“…Biochemical analyses for MMA or PA can be used as an alternative or additional method in cases where the genetic results are inconclusive or not available. Prenatal diagnosis of MMA can be performed by measurement of MMA in dried amniotic fluid 14 and of PA by determination of 2‐methylcitrate with the same method 15 . The combination of two independent methods (biochemical and genetics) increases the reliability of results 16 .…”

Section: Guidelinesmentioning

confidence: 99%

“…Prenatal diagnosis of MMA can be performed by measurement of MMA in dried amniotic fluid 14 and of PA by determination of 2-methylcitrate with the same method. 15 The combination of two independent methods (biochemical and genetics) increases the reliability of results. 16 These guidelines only recommend on the mode of prenatal diagnosis and do not address individual, cultural and ethical values and considerations.…”

Section: Prenatal Testingmentioning

confidence: 99%

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Forny

Hörster

Ballhausen³

et al. 2021

J of Inher Metab Disea

158

207

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Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re‐evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well‐informed decisions in the context of MMA and PA patient care.

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“…Reliable methods for prenatal diagnosis are thus essential for neonatal management of PA. Different approaches have been applied to prenatal diagnosis of PA including direct propionyl-CoA carboxylase activity assay in chorionic villi (CV) [ 9 , 10 ], quantification of the characteristic metabolites including acylcarnitines, propionic acids and methylcitric acids in cell-free amniotic fluid (AF) [ 11 – 14 ]; and direct pathogenic variant analysis of PCCA or PCCB genes in amniocytes. However, each approach has its limitations.…”

Section: Introductionmentioning

confidence: 99%

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Dai

Xiao

Zhang

et al. 2020

Orphanet J Rare Dis

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Background Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal diagnosis of PA, we conducted a retrospective study of our 11-year experiences at a single center. Methods We accumulated data from 78 pregnancies from 58 families referred to our center and provided prenatal diagnosis by directed genetic analysis and/or metabolite measurement using tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) of amniotic fluid (AF) samples. Results Sixty-five unaffected fetuses (83.33%) and 13 affected fetuses (16.67%) were confirmed in our study. The characteristic metabolites including propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio and 2-methylcitric acid (2MCA) level in unaffected and affected groups showed significant differences (P < 0.0001), while the level of 3-hydroxypropionic acid (3HPA) showed no significant difference between the two groups (P > 0.05).Of the 78 pregnancies, 24 fetuses were found to have either one causative pathogenic variant or were without genetic information in the proband. Three of these fetuses had elevated AF levels of C3, C3/C2 ratio, and 2MCA and, thus, were determined to be affected, while the remaining fetuses were determined to be unaffected based on a normal AF metabolite profile. Our genetic and biochemical results were highly consistent with postnatal follow-up results on all unaffected fetuses. Conclusions We conclude that a biochemical approach can serve as a fast and convenient prenatal diagnostic method for pregnancies at an increased risk for PA, which could be used in conjunction with genetic testing for precise prenatal diagnosis of this disorder. In our analysis, the characteristic metabolites C3 level, C3/C2 ratio, and 2MCA level in AF supernatant were dependable biochemical markers for diagnosis, of which the C3/C2 ratio appears to be the most reliable biochemical marker for the prenatal diagnosis of PA.

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Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS

Cited by 11 publications

References 11 publications

Gestational age‐related reference values for amniotic fluid organic acids

Gestational age‐related reference values for amniotic fluid organic acids

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

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