Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Wilcken, Bridget; Haas, Marion; Joy, Pamela; Wiley, Veronica; Bowling, Francis; Carpenter, Kevin; Christodoulou, John; Cowley, David; Ellaway, Carolyn; Fletcher, Janice M.; Kirk, Edwin P.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; Ranieri, Enzo; Yaplito‐Lee, Joy; Boneh, Avihu

doi:10.1542/peds.2008-0586

Cited by 143 publications

(105 citation statements)

References 23 publications

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“…This finding could be replicated in our follow-up study. As for many other conditions, also in MCADD the number of patients identified by screening is higher than the number of patients identified clinically (Derks et al 2005;Wilcken et al 2007;Wilcken et al 2009). The genotypic spectrum in screened cohorts includes presumably mild mutations like c.199T>C (Andresen et al 2001;Maier et al 2005), and there is ongoing discussion about genotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 93%

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

et al. 2015

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Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is included in many newborn screening programmes worldwide. In addition to the prevalent mutation c.985A>G in the ACADM gene, potentially mild mutations like c.199T>C are frequently found in screening cohorts. There is ongoing discussion whether this mutation is associated with a clinical phenotype.Methods: In 37 MCADD patients detected by newborn screening, biochemical phenotype (octanoylcarnitine (C8), ratios of C8 to acetylcarnitine (C2), decanoylcarnitine (C10) and dodecanoylcarnitine (C12) at screening and confirmation) and clinical phenotype (inpatient emergency treatment, metabolic decompensations, clinical assessments, psychometric tests) were assessed in relation to genotype.

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Section: Discussionmentioning

confidence: 93%

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

et al. 2015

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“…The outcome of MCAD deficiency is generally favorable if the disorder is identified early, treatment is implemented, and prompt interventions occur during times of illness. 22,23 Medical management strategies include avoidance of medium-chain triglycerides, frequent feeding to shorten periods of fasting, and prompt medical attention during conditions of increased metabolic demand such as infection.…”

Section: Discussionmentioning

confidence: 99%

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Wiles

Leslie²,

Knilans

et al. 2014

Pediatrics

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Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated with electrocardiographic abnormality. We review the clinical presentation and diagnosis of MCAD deficiency in neonates.

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“…It may be assumed that individuals with the mild phenotype identified by NBS may remain asymptomatic throughout their lives [30]. This hypothesis is supported by family studies identifying asymptomatic individuals with biochemical evidence of IVA and genotypes identical to their younger siblings identified by NBS [30] and by the reported increase in the prevalence of organic acidurias in screened cohorts as compared to clinical ascertainment [32,37,48,66,67].…”

Section: Clinical Presentationmentioning

confidence: 97%

“…Prevalences from other countries were reported to be lower, such as 1 in 660,000 in Taiwan [46] or 1 in 105,000 in Portugal [47]. In Australia, the prevalence of IVA has been shown to be 1 in 775,600 in the unscreened population and 1 in 230,750 in a screened cohort [48]. Similarly, an analysis of available evidence by Dionisi-Vici et al showed a more than four times higher incidence of IVA in the screened population as compared to clinical diagnosis [37], suggesting that the phenotypic spectrum of IVA detected by NBS is different and may include individuals that would not have presented clinically.…”

Section: Iva Newborn Screening: Diagnosis Birth Prevalence and Diffementioning

confidence: 99%

Aspects of Newborn Screening in Isovaleric Acidemia

Schlune

Riederer

Mayatepek

et al. 2018

IJNS

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Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes were known, an "acute neonatal" and a "chronic intermittent" form. An additional biochemically mild and potentially asymptomatic form of IVA and its association with a common missense mutation, c.932C>T (p.A282V), was discovered in subjects identified through NBS. Deficiency of short/branched chain specific acyl-CoA dehydrogenase (2-methylbutyryl-CoA dehydrogenase), a defect of isoleucine degradation whose clinical significance remains unclear, also results in elevated C5-carnitine, and may therefore be detected by NBS for IVA. Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with L-carnitine and/or L-glycine. Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required.

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Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Abstract: Screening by tandem mass spectrometry provides a better outcome for patients at 6 years of age, with fewer deaths and fewer clinically significant disabilities.

Cited by 143 publications

References 23 publications

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Aspects of Newborn Screening in Isovaleric Acidemia

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