Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Aksglæde, Lise; Christensen, Mette; Olesen, Jes; Dunø, Morten; Olsen, Rikke K.J.; Andresen, Brage S.; Hougaard, David M.; Lund, Allan M.

doi:10.1007/8904_2015_428

Cited by 7 publications

(7 citation statements)

References 35 publications

(36 reference statements)

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“…8,9 MCADD is a relatively mild fatty acid oxidation disorder (FAOD) and many affected individuals are asymptomatic and identified only on the diagnosis of metabolic defects in offspring and siblings. 10,11 The real prevalence of MCADD, however, could be higher than that suggested by the given data. Given that there is no evidence suggesting a certain ACADM genotype to be a safe one that offers protection from clinical symptoms, 12,13 even asymptomatic patients should be assessed.…”

contrasting

confidence: 67%

“…Interestingly, NBS could identify maternal MCADD: Aksglaede et al reported the case of an MCADD carrier infant with abnormal concentration of specific acyl-carnitines and low C0 (6.0 mmol/L), which contributed to the diagnosis of MCADD in the mother. 10 Importantly, false-positive and false-negative results can be observed on NBS. Very low-birthweight infants harboring a heterozygous pathogenic ACADM mutation are more likely to have elevated C8.…”

Section: Discussionmentioning

confidence: 99%

“…Further, unusual phenotypes have been reported, such as cardiac disease and pulmonary hemorrhage, in which the pulmonary hemorrhage is suggested to be a complication of heart failure . MCADD is a relatively mild fatty acid oxidation disorder (FAOD) and many affected individuals are asymptomatic and identified only on the diagnosis of metabolic defects in offspring and siblings . The real prevalence of MCADD, however, could be higher than that suggested by the given data.…”

mentioning

confidence: 84%

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Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Zhu

Liu

et al. 2019

Pediatrics International

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Background Medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD) is a rare autosomal recessive disorder that affects the degradation of medium‐chain fatty acids. Few cases of MCADD have been documented to date in mainland China. Methods Medium‐chain acyl‐coenzyme A dehydrogenase deficiency was diagnosed in six patients (three girls and three boys) from six unrelated Chinese families at ages ranging from 10 days to 3 years old. The diagnosis was confirmed by the identification of a primary biomarker of serum octanoyl‐carnitine (C8) and genetic pathogenic mutations. Results Only two patients were admitted because of vomiting, diarrhea, myasthenia, and coma; the other four patients were diagnosed via the newborn screening process. Six mutations were found in acyl‐CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. Conclusions Six Chinese cases of MCADD were identified. One novel mutation was found. c.449_452del and c.1085G>A were common mutations in this study.

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contrasting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 84%

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Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Zhu

Liu

et al. 2019

Pediatrics International

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“…Increase in C6, C8, C10, with C8 most markedly, indicates medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency 28 29 30) . Slightly elevated C8 of a neonate is also presented in MCAD deficiency carrier.…”

Section: Acylcarnitine As a Marker For Fatty Acid Oxidation Disorder mentioning

confidence: 99%

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Yoon

2015

Ann Pediatr Endocrinol Metab

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The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.

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“…Curiously, levels of C5DC in the newborn are normal and what is usually observed is a secondary depletion of free carnitine levels [ 17 ]. Low levels of free carnitine on NBS have also been described in maternal carnitine transporter deficiency and maternal MCAD deficiency [ 18 ], which thus entails making a differential diagnosis among these disorders. In our experience, approximately half of the suspected cases of carnitine transporter defect in the newborn are of metabolic maternal origin.…”

Section: Discussionmentioning

confidence: 99%

Metabolic Serendipities of Expanded Newborn Screening

Yahyaoui

Blasco‐Alonso

Gonzalo-Marín

et al. 2020

Genes

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Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future.

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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Cited by 7 publications

References 35 publications

Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry

Metabolic Serendipities of Expanded Newborn Screening

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