Cribado neonatal ampliado en la Región de Murcia. Experiencia de tres años

Juan-Fita, María Jesús; Egea-Mellado, José María; González-Gallego, Inmaculada; Moya‐Quiles, María Rosa; Fernández-Sánchez, Asunción

doi:10.1016/j.medcli.2011.10.007

Cited by 17 publications

(9 citation statements)

References 26 publications

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“…An IEM was diagnosed in 1/2670 newborns, a remarkably similar rate was found in other studies performed in our Country (in the region of Galicia: 1/2060, excluding benign HPA 17 ; in the region of Aragon : 1/2573 18 ; in the region of Murcia: 1/1884, including Cystic Fibrosis 19 ). This rate is also similar in other Western European Countries: Portugal: 1/2396, 20 Germany: 1/2712, 21 or Italy: 1/2000 22 ).…”

Section: Discussionsupporting

confidence: 88%

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

et al. 2022

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We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newborns with alterations were referred to the clinical centers for follow-up.Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592 822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at

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Section: Discussionsupporting

confidence: 88%

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

et al. 2022

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“…Publications from Europe show a heterogeneous picture with two publications reporting relatively high figures from the Southern region. Juan-Fita et al (2012) identified 10 MMA cases in Murcia, Spain during a pilot screening program covering 71,595 newborns that resulted in a detection rate of 13.97 per 100,000 newborns [31]. Authors explained this high number by the relatively high rate of immigration from North Africa and South America.…”

Section: Resultsmentioning

confidence: 99%

“…As in the vast majority of cases the reported data was not stratified by race/ethnicity, it was not possible to adjust for this factor in the conducted meta-analysis. However, it was addressed by three studies [31, 58, 61]. Lim et al [58] found that the ethnic distribution of diagnosed cases was comparable to that of the national population in Singapore [58].…”

Section: Discussionmentioning

confidence: 99%

“…Feuchtbaum et al [61] analyzed the racial/ethnic distribution of MMA subtypes in the United States and found that MMA mut − is more frequent among the Middle Easterns, Filipinos, Vietnameses and Southeast Asians, while MMA mut 0 seemed to be more frequent in Asian East Indian, Chinese and Filipino racial/ethnic groups [61]. Relatively high birth prevalence was reported in Southern Spain by Juan Fita et al [31] which was explained by the growing immigration rates from North Africa and South America as 6 of the 10 positively screened children originated from parents arriving from the abovementioned regions [31]. These studies may indicate that investigating the ethnicity distribution of diagnosed cases may provide a more accurate picture on disease occurrence.…”

Section: Discussionmentioning

confidence: 99%

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Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Almási¹,

Guey

Lukacs

et al. 2019

Orphanet J Rare Dis

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Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caused by the deficiency of methylmalonyl-CoA mutase (MMA mut; EC 5.4.99.2). A systematic literature review and a meta-analysis were undertaken to assess and compile published epidemiological data on MMA with a focus on the MMA mut subtype (OMIM #251000). Of the 1114 identified records, 227 papers were assessed for eligibility in full text, 48 articles reported on disease epidemiology, and 39 articles were included into the quantitative synthesis. Implementation of newborn screening in various countries has allowed for the estimation of birth prevalence of MMA and its isolated form. Meta-analysis pooled point estimates of MMA (all types) detection rates were 0.79, 1.12, 1.22 and 6.04 per 100,000 newborns in Asia-Pacific, Europe, North America and the Middle East and North Africa (MENA) regions, respectively. The detection rate of isolated MMA was < 1 per 100,000 newborns in all regions with the exception of MENA where it approached 6 per 100,000 newborns. Few studies published data on the epidemiology of MMA mut, therefore no meta-analysis could have been performed on this subtype. Most of the identified papers reported birth prevalence estimates below 1 per 100,000 newborns for MMA mut. The systematic literature review clearly demonstrates that MMA and its subtypes are ultra-rare disorders. Electronic supplementary material The online version of this article (10.1186/s13023-019-1063-z) contains supplementary material, which is available to authorized users.

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“…Se han identificado más de 1.500 mutaciones, pero la más frecuente es la deleción de una fenilalanina en la posición 508 ( F508), afectando aproximadamente al 94% de los individuos; ninguna de las demás mutaciones supera el 5% 1,2 . En España su incidencia oscila entre uno por cada 2.810-8.028 nacidos vivos, dependiendo de la diferente prevalencia de la mutación F508 3,4 . En las últimas décadas la supervivencia de los pacientes con CF ha mejorado significativamente gracias a los avances en los cuidados médicos respiratorios y nutricionales, llegando a alcanzar una esperanza de vida entre 30 y 40 años de edad 5 .…”

Section: Introductionunclassified

Resistencia insulínica, disfunción de la célula β pancreática y diferencias en los puntos intermedios de las curvas de glucemia e insulina tras una sobrecarga oral estándar de glucosa en adultos con fibrosis quística

Megías

Albarrán

Guisado-Vasco³

et al. 2015

Endocrinología y Nutrición

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Cribado neonatal ampliado en la Región de Murcia. Experiencia de tres años

Cited by 17 publications

References 26 publications

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Resistencia insulínica, disfunción de la célula β pancreática y diferencias en los puntos intermedios de las curvas de glucemia e insulina tras una sobrecarga oral estándar de glucosa en adultos con fibrosis quística

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