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

Kasper, David C.; Ratschmann, Rene; Metz, Thomas F.; Mechtler, Thomas P.; Möslinger, Dorothea; Konstantopoulou, Vassiliki; Item, Chike B.; Pollak, Arnold; Herkner, Kurt

doi:10.1007/s00508-010-1457-3

Cited by 56 publications

(52 citation statements)

References 33 publications

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“…If we compare it excluding SCADD (not screened in Portugal), the difference is even bigger (1/6,351 versus 1/14,817). Undoubtedly, MCADD is the major contributor for this difference; nevertheless, all other FAOD present in Portugal higher Austria (Kasper et al 2010) 622 CI confidence interval, calculated using Wilson's score method birth prevalence than in Spain. In Portugal, the prevalence of MCADD (1:8,380: 95% CI; 1:10,221 to 1:6,869) is higher than in any Spanish region and than in any other country with available data reported so far (Table 1).…”

Section: Resultsmentioning

confidence: 96%

“…Since the introduction of FAOD in the screening panels of NBS programs, generated data has pointed to a significant increase in the disease incidence (Wilcken et al 2007) that is now believed to be about 1:9,000, although some significant differences can be observed between different populations (Zytkovicz et al 2001;Wilcken et al 2003;Frazier et al 2006;Kasper et al 2010;Lindner et al 2011;Lund et al 2012). In the pre-NBS era, diagnosis was achieved mainly through organic acid analysis in the urine of symptomatic patients that resulted in a low detection rate, which together with the detection of potentially asymptomatic patients through NBS, justifies the observed difference (Sturm et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

et al. 2014

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Mitochondrial fatty acid b-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.

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Section: Resultsmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

et al. 2014

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“…Дефицит активности фермента орнитин-транскарбамилазы, впервые описанный в 1962 г., встречается с частотой 1 случай на 30 тыс. мальчиков [10,12]. Мужчины гемизиготны по гену OTC, кодиру-ющему орнитинтранскарбамилазу, и, следовательно, при наличии мутации в нем имеют выраженную кли-ническую картину.…”

Section: Introductionunclassified

Ornithine Transcarbamylase Deficiency – The Real Cause of “Family Curse”. A Case Report

Багомедова¹,

Котов²,

Борисова³

et al. 2016

Rus. ž. det. nevrol.

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“…2,3 La enfermedad se presenta como una encefalopatía hiperamoniémica en el período neonatal o la infancia y lleva a la muerte o morbilidad. Otras formas de presentación son falla de medro, problemas de conducta, aversión a las proteínas o síntomas desencadenados por catabolismo.…”

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“…2,3 El tratamiento etiológico de la enfermedad logró diferir el trasplante hepático en este caso, por lo que se resalta la importancia de definir la etiología de la falla. n…”

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Citrulinemia tipo I con insuficiencia hepática recurrente en un niño

Bindi

Eiroa

2017

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa citrulinemia tipo I es un desorden autosómico recesivo causado por la mutación del gen ASS1, que expresa argininosuccinato sintetasa, enzima limitante del ciclo de la urea. Las variantes clásicas están asociadas con la forma neonatal/ infantil, que llevan a hiperamoniemia y a la muerte si el tratamiento no es instaurado. Los síntomas iniciales de los trastornos del ciclo de la urea incluyen deterioro neurológico con leve o moderado daño hepático. Reportamos un caso de falla hepática recurrente en un lactante con diagnóstico de citrulinemia tipo I sin compromiso neurológico grave, que fue derivado a nuestro centro para trasplante hepático. La falla hepática aguda puede ser causada por una gran variedad de desórdenes, dentro de los que se incluyen errores congénitos del metabolismo. El tratamiento adecuado de los trastornos del ciclo de la urea y, en particular, la citrulinemia I puede evitar la necesidad de un trasplante. Palabras clave: citrulinemia, trastornos innatos del ciclo de la urea, falla hepática, pediatría, trasplante hepático. ABSTRACTCitrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation. Acute liver failure can be caused by a wide range of disorders in which inborn errors of metabolism are included. Appropriate treatment of disorders of the urea cycle and in particular citrullinemia I can avoid the need for a transplant. Citrulinemia tipo I con insuficiencia hepática recurrente en un niño Citrullinemia type I with recurrent liver failure in a child INTRODUCCIÓNLa citrulinemia tipo I es un trastorno del ciclo de la urea causado por la deficiencia de argininosuccinato sintetasa, cuya función e s c o n v e r t i r l a c i t r u l i n a y a s p a r t a t o e n argininosuccinato.

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

Cited by 56 publications

References 33 publications

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia

Ornithine Transcarbamylase Deficiency – The Real Cause of “Family Curse”. A Case Report

Citrulinemia tipo I con insuficiencia hepática recurrente en un niño

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