Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients

Zhou, Duo; Ye, Meiling; Hu, Zhenzhen; Zhu, Lin; Yang, Rong; Huang, Xinwen

doi:10.3724/zdxbyxb-2021-0261

Cited by 6 publications

(10 citation statements)

References 28 publications

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“…MADD is a fatty acid oxidation disorder caused by electron transfer defects in the respiratory chain. Functional defects in either of ETF and ETF-QO result in electrons from the dehydrogenases of mitochondria beta-oxidation not being accepted, while C8–C14 levels are often elevated in children with late-onset MADD ( 2 , 9 ). Furthermore, the majority of patients with MADD in Quanzhou showed elevations in C6, C8, C10, C12, C14, and C14:1 ( 10 ).…”

Section: Discussionmentioning

confidence: 99%

“…Multiple Acyl-CoA dehydrogenation deficiency (MADD) is a rare, chromosomal, recessive, inherited metabolic deficiency that affects the metabolism of fatty acids, amino acids, and cholines ( 1 ). The incidence of neonatal MADD varies significantly by region and is approximately 1/299753 in China ( 2 ). MADD, also known as glutaric acidemia II or glutaric aciduria II (GAII), can be caused by mutations in any of alpha subunit ETF ( ETFA ) gene, beta subunit ETF ( ETFB ) gene and ETFDH gene.…”

Section: Introductionmentioning

confidence: 99%

“…According to ETFA , ETFB , and ETFDH genes deficiencies, MADD can be subclassified as GAIIA, GAIIB, and GAIIC, respectively. The clinical presentation of MADD is highly heterogeneous, lacks specific symptoms and signs, and can develop at any time from the neonatal stage to adulthood ( 2 ). According to the age of onset, MADD can be divided into three types: Types I, II, and III.…”

Section: Introductionmentioning

confidence: 99%

“…Types I and II have onset during the neonatal period, while Type III is typically associated with congenital malformations, such as polycystic kidney disease and midface hypoplasia. Type III, also known as late-onset MADD, generally occurs in infants to adults ( 2 ). Types I and II are more severe, often fatal, and characterized by nonketotic hypoglycemia, metabolic acidosis, and the accumulation and excretion of metabolites.…”

Section: Introductionmentioning

confidence: 99%

“…Late-onset MADD is diagnosed by a characteristic pattern of urine organic acids, demonstrating elevations of various combinations of aliphatic mono- and dicarboxylic acids, including 2-hydroxyglutaric, ethylmalonic, hippuric, adipic, and sebacic acids ( 7 ). In addition, a characteristic plasma acylcarnitine profile would show an increase in short-, medium-, and long-chain acylcarnitines (C4–C18:1) in neonatal screening using tandem mass spectrometry ( 2 , 8 ). Here, we report a case of two siblings with late-onset MADD carrying a novel compound heterozygous mutation in ETFDH .…”

Section: Introductionmentioning

confidence: 99%

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Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

Yuan¹,

Zhang²,

Chen³

et al. 2023

Front. Pediatr.

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This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene. Whole exome sequencing (WES) was performed in the proband's pedigree. Clinical phenotypes of Proband 1 (acidosis, hypoglycemia, hypotonia, muscle weakness, vomiting, hypoglycemia, hepatomegaly, glutaric acidemia, and glutaric aciduria) were consistent with symptoms of MADD caused by the ETFDH mutation. However, Proband 2 presented with only a short stature. The patients (exhibiting Probands 1 and 2) showed identical elevations of C6, C8, C10, C12, and C14:1. c.1842_1845 (exon13)dup, and c.250 (exon3) G > A of the ETFDH gene were compound heterozygous variants in both patients. The novel variant c.1842_1845dup was rated as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines (ACMG). This is the first report on the c.1842_1845dup mutation of the ETFDH gene in patients with late-onset MADD, and the data described herein may help expand the mutation spectrum of ETFDH.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

Yuan¹,

Zhang²,

Chen³

et al. 2023

Front. Pediatr.

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Metabolomic insights into maternal and neonatal complications in pregnancies affected by type 1 diabetes

Meek,

Stewart,

Feig

et al. 2023

Diabetologia

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Aims/hypothesis Type 1 diabetes in pregnancy is associated with suboptimal pregnancy outcomes, attributed to maternal hyperglycaemia and offspring hyperinsulinism (quantifiable by cord blood C-peptide). We assessed metabolomic patterns associated with risk factors (maternal hyperglycaemia, diet, BMI, weight gain) and perinatal complications (pre-eclampsia, large for gestational age [LGA], neonatal hypoglycaemia, hyperinsulinism) in the Continuous Glucose Monitoring in Women with Type 1 Diabetes in Pregnancy Trial (CONCEPTT). Methods A total of 174 CONCEPTT participants gave ≥1 non-fasting serum sample for the biorepository at 12 gestational weeks (147 women), 24 weeks (167 women) and 34 weeks (160 women) with cord blood from 93 infants. Results from untargeted metabolite analysis (ultrahigh performance LC-MS) are presented as adjusted logistic/linear regression of maternal and cord blood metabolites, risk factors and perinatal complications using a modified Bonferroni limit of significance for dependent variables. Results Maternal continuous glucose monitoring time-above-range (but not BMI or excessive gestational weight gain) was associated with increased triacylglycerols in maternal blood and increased carnitines in cord blood. LGA, adiposity, neonatal hypoglycaemia and offspring hyperinsulinism showed distinct metabolite profiles. LGA was associated with increased carnitines, steroid hormones and lipid metabolites, predominantly in the third trimester. However, neonatal hypoglycaemia and offspring hyperinsulinism were both associated with metabolite changes from the first trimester, featuring triacylglycerols or dietary phenols. Pre-eclampsia was associated with increased abundance of phosphatidylethanolamines, a membrane phospholipid, at 24 weeks. Conclusions/interpretation Altered lipid metabolism is a key pathophysiological feature of type 1 diabetes pregnancy. New strategies for optimising maternal diet and insulin dosing from the first trimester are needed to improve pregnancy outcomes in type 1 diabetes. Graphical Abstract

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Features and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Zheng

Yang

et al. 2022

Acta Neurol Belg

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Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients

Cited by 6 publications

References 28 publications

Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency

Metabolomic insights into maternal and neonatal complications in pregnancies affected by type 1 diabetes

Features and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency

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