Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Fingerhut, Ralph; Olgemöller, Bernhard

doi:10.1007/s00216-008-2505-y

Cited by 21 publications

(22 citation statements)

References 193 publications

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“…Now several disorders can be detected by one test including amino acidemias, FAO disorders, and organic acidurias. Th us, there is the chance to detect many diseases which were formerly associated with poor outcomes with a better prognosis due to early detection by NBS [8].…”

Section: Discussionmentioning

confidence: 99%

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Kasper

Ratschmann

Metz

et al. 2010

Wien Klin Wochenschr

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the introduction of MS/MS technology in Austria significantly increased the detection of inherited metabolic disorders that were previously not covered. A primary goal is the continuous effort by developing second-tier strategies with the inclusion of more specific markers in order to minimize the risk of false-negatives and to improve the positive predictive value of screening results. Early recognition of these disorders enables diagnosis and treatment before the onset of symptoms.

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Section: Discussionmentioning

confidence: 99%

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Kasper

Ratschmann

Metz

et al. 2010

Wien Klin Wochenschr

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“…Introduction of tandem mass spectrometry (MS/MS) for NBS allowed the detection of elevated levels of C5-carnitine in dried blood spots [43]. In urine, the elevation of IVG confirms the metabolic diagnosis of IVA [44].…”

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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“…DNA microarray technology is currently used in neonatal screening so that the underlying disease due to mutations caused obtain early diagnosis, laid the foundation for further gene therapy. After the detection of biochemical markers have been mature during the traditional detect genetic diseases, gene level may be used as a further diagnosis, gene diagnosis such as congenital adrenal hyperplasia and cystic fibrosis [25]. To clear the gene mutations cause hereditary diseases, DNA testing is a priority level of inspection.…”

Section: Third the Prospect Of Congenital Hypothyroidism Disease Scrmentioning

confidence: 99%

Current situation of newborn screening for congenital hypothyroidism in China

Liu¹,

Liu²,

Xia³

et al. 2015

Integr Mol Med

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Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Abstract: Newborn screening for inborn errors of metabo-

Cited by 21 publications

References 193 publications

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals

Aspects of Newborn Screening in Isovaleric Acidemia

Current situation of newborn screening for congenital hypothyroidism in China

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