scholarly journals Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

2019 ◽  
Vol 10 ◽  
Author(s):  
Yiming Lin ◽  
Hongzhi Gao ◽  
Chunmei Lin ◽  
Yanru Chen ◽  
Shuang Zhou ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Chinese Patients ◽  
Genetic Characteristics ◽  
Chain Acyl ◽  
Branched Chain

Issues in State Newborn Screening Programs

PEDIATRICS ◽  
1992 ◽  
Vol 90 (4) ◽  
pp. 641-646 ◽  
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Medical Literature ◽  
Biotinidase Deficiency ◽  
New Techniques ◽  
Genetic Characteristics ◽  
Screening Programs ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Grand Rounds

These are heady times for newborn screening. Articles in the medical literature and speakers at grand rounds urge us to test babies for disorders, including cystic fibrosis,1 biotinidase deficiency,2 and medium-chain acyl coenzyme A dehydrogenase deficiency.3 States are expanding the batteries of tests they perform. My own state of Tennessee just began testing neonates for galactosemia this year. And this is no doubt just the beginning. New techniques are being developed that will make it possible to look for a host of genetic characteristics using microscopic amounts of blood. We soon may be able to discern many conditions and characteristics of our children.

scholarly journals Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

2013 ◽  
Vol 110 (1-2) ◽  
pp. 111-115 ◽  
Author(s):  
Sandra C. Van Calcar ◽  
Mei W. Baker ◽  
Phillip Williams ◽  
Susan A. Jones ◽  
Blia Xiong ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Mutation Analysis ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Branched Chain

Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population

2020 ◽  
Vol 33 (6) ◽  
pp. 683-690
Author(s):  
Shuting Wang ◽  
Junhong Leng ◽  
Chengming Diao ◽  
Yuan Wang ◽  
Rongxiu Zheng
Keyword(s):  
Fatty Acid ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Genetic Characteristics ◽  
Disease Spectrum ◽  
Recurrent Mutations ◽  
Chain Acyl ◽  
Acute Decompensation

AbstractBackgroundFatty acid β-oxidation disorders (FAODs) include more than 15 distinct disorders and have a wide variety of symptoms, usually not evident between episodes of acute decompensation. After the introduction of newborn screening (NBS) using tandem mass spectrometry (MS/MS), early identification of FAODs has become feasible. We analyzed the MS/MS results in Tianjin, China during a six-year period to evaluate the incidence, disease spectrum, and genetic characteristics of FAODs.MethodsWe analyzed the MS/MS results for screening FAODs from May 2013 to December 2018 in Tianjin, China. Infants with positive screening results were confirmed through next-generation sequencing and validated by Sanger sequencing.ResultsA total of 220,443 infants were screened and 25 FAODs patients were identified (1:8,817). Primary carnitine deficiency (PCD) with an incidence rate up to 1:20,040 was the most common disorder among all FAODs. Recurrent mutations of relatively common diseases, like PCD and short-chain acyl-CoA dehydrogenase deficiency (SCADD), were identified. During the follow-up, two patients suffered from sudden death due to carnitine palmitoyl transferase-Ⅱ deficiency (CPT Ⅱ) and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD).ConclusionOur data indicated that FAODs are relatively common in Tianjin and may even cause infant death in certain cases. The elucidated disease spectrum and genetic backgrounds elucidated in this study may contribute to the treatment and prenatal genetic counseling of FAODs.

scholarly journals Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Zhuwen Gong ◽  
Lili Liang ◽  
Wenjuan Qiu ◽  
Huiwen Zhang ◽  
Jun Ye ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Dehydrogenase Deficiency ◽  
Disease Onset ◽  
Chinese Patients ◽  
Gas Chromatography Mass Spectrometry ◽  
Inherited Metabolic Disorder ◽  
Medium Chain ◽  
Chain Acyl ◽  
Generation Sequencing ◽  
Biochemical Abnormalities

ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder in a large cohort of Chinese patients.MethodsA total of 24 patients were enrolled, and blood acylcarnitine and urinary organic acid levels were measured by tandem mass spectrometry and gas chromatography–mass spectrometry (GC–MS), respectively. Mutations in the ACADM gene were detected by Sanger or next-generation sequencing. Clinical progression, acylcarnitine spectra, and mutations were analyzed and described in detail.ResultsAmong the 24 patients, six cases were diagnosed because of disease onset with symptoms such as vomiting, diarrhea, convulsion, and hypoglycemia; 18 patients without symptoms were diagnosed by newborn screening (NBS). All patients who accepted treatment after diagnosis developed normal intelligence and physique. The concentrations of octanoylcarnitine, the octanoylcarnitine/decanoylcarnitine ratio, and the octanoylcarnitine/acetylcarnitine ratio in the blood and urinary dicarboxylic acid concentrations were consistently elevated. Blood biomarkers failed to decrease after treatment. DNA sequencing revealed seven known and 17 novel mutations in the ACADM gene of patients. Mutation p.T150Rfs∗4 was most frequent, followed by p.R31C, p.F103Y, p.I223T, p.G362E, and c.387+1delG.ConclusionDespite biochemical abnormalities, medium-chain acyl-CoA dehydrogenase deficiency showed relatively mild clinical phenotypes with low mortality and optimistic prognoses in China. NBS is crucial for early diagnosis, treatment, and prognosis.

scholarly journals Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

2020 ◽  
Vol 6 (3) ◽  
pp. 58
Author(s):  
MariaAnna Messina ◽  
Alessia Arena ◽  
Agata Fiumara ◽  
Riccardo Iacobacci ◽  
Concetta Meli ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Family Members ◽  
Clinical Manifestations ◽  
Vitamin B12 Deficiency ◽  
Short Chain ◽  
Tandem Mass ◽  
Chain Acyl

Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms.

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