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Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia
Abstract
Introduccion La enfermedad de la orina con olor a jarabe de arce (MSUD) es un raro trastorno de herencia autosomica recesiva en el que, debido a la deficiencia enzimatica en el complejo deshidrogenasa de los α-cetoacidos de cadena ramificada, se produce acumulacion de los aminoacidos leucina, isoleucina, valina y aloisoleucina y sus productos metabolicos en celulas y liquidos biologicos, lo que conduce a una disfuncion cerebral grave. Pacientes y metodo Presentamos los tres casos de MSUD diagnosticados desde el ano 2000 en Galicia, a partir de la puesta en marcha del Programa de Cribado Neonatal por espectrometria de masas en tandem (MS/MS) en muestra de sangre impregnada en papel. Se trata de dos formas clasicas y una intermedia de MSUD, una diagnosticada por el inicio clinico precoz y dos a traves del cribado neonatal. Todos los casos fueron confirmados mediante estudio enzimatico y genetico. Se expone la situacion clinica y bioquimica al diagnostico y durante el seguimiento posterior. Los tres mantuvieron un adecuado control metabolico con concentraciones medias de leucina a lo largo del tiempo cercanos al rango normal (220, 177 y 252 μmol/l, respectivamente). Presentaron descompensaciones moderadas y solo superaron de forma aislada, un dia en dos de los pacientes, los 1.000 μmol/l de leucina. Los cocientes de desarrollo en los tres casos estan en rango normal. Resultados A la vista de nuestros resultados, consideramos clave para mejorar el pronostico de los pacientes con MSUD: la inclusion de esta enfermedad dentro de los programas de cribado neonatal con toma de muestra precoz, a los dos o tres dias de vida; un tratamiento agresivo en la fase inicial y en las crisis por descompensacion metabolica; un control evolutivo estricto con el fin de prevenir descompensaciones, y la monitorizacion de aminoacidos ramificados de forma comoda para el paciente (sobre muestra de sangre en papel) manteniendo concentraciones de leucina inferiores a 300 μmol/l.
  • References (19)
  • Cited By (5)
P. A. W. Harper2
Estimated H-index: 2
,
P. J. Healy2
Estimated H-index: 2
,
J. A. Dennis2
Estimated H-index: 2
214 Citations Source
2012
Hélène Ogier de Baulny20
Estimated H-index: 20
,
Carlo Dionisi-Vici42
Estimated H-index: 42
,
U. Wendel20
Estimated H-index: 20
(Boston Children's Hospital)
Branched-chain organic acidurias or organic acidaemias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively, the most commonly encountered are maple syrup urine disease (MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methyl malonic aciduria (MMA). They can present clinically as a severe neonatal-onset form of metabolic distress, an acute and intermittent late-onset form, or a chron...
32 Citations Source Cite
Mary M. Nellis3
Estimated H-index: 3
(Emory University),
Andrea L. Kasinski12
Estimated H-index: 12
(Emory University)
+ 4 AuthorsDean J. Danner19
Estimated H-index: 19
(Emory University)
Abstract Maple syrup urine disease [MSUD] is a rare inborn error of metabolism inherited as an autosomal recessive trait through mutations in any of three different genes that encode components of the branched chain α-ketoacid dehydrogenase [BCKD] complex. In this work, the genotype of affected individuals was correlated with their clinical histories. These individuals were diagnosed and followed in a single centralized clinic, and their molecular genetic characterization was done by one laborat...
42 Citations Source Cite
E. Simon2
Estimated H-index: 2
(University of Düsseldorf),
R. Fingerhut1
Estimated H-index: 1
+ 3 AuthorsUdo Wendel35
Estimated H-index: 35
(University of Düsseldorf)
Background: In the rare autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids and their metabolic products results in acute and chronic brain dysfunction. Since 2002, MSUD has been part of the extended newborn screening programme in Germany and Austria. Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD. Aim: T...
51 Citations Source Cite
2006 in Human MutationIF: 5.36
Pilar Rodríguez-Pombo15
Estimated H-index: 15
(Spanish National Research Council),
Rosa Navarrete8
Estimated H-index: 8
(Spanish National Research Council)
+ 2 AuthorsMagdalena Ugarte31
Estimated H-index: 31
(Spanish National Research Council)
Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1α, E1β, and E2 catalytic components of the branched-chain α-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular phenotypes. Severity of the disease ranges from the classical to the mildest variant types. Here, we describe the MSUD genotypes and related phenotypes in a cohort of 33 Spanish patients. Based on complementatio...
31 Citations Source Cite
K. Heldt1
Estimated H-index: 1
(Boston Children's Hospital),
Bernd Schwahn4
Estimated H-index: 4
(Boston Children's Hospital)
+ 2 AuthorsU. Wendel20
Estimated H-index: 20
(Boston Children's Hospital)
Abstract Maple syrup urine disease (MSUD) is a genetic metabolic disorder resulting from the defective activity of branched-chain 2-ketoacid dehydrogenase complex. Due to the metabolic block, high concentrations of the branched-chain amino acids (BCAA) leucine, valine, isoleucine, and allo-isoleucine as well as their corresponding branched-chain 2-keto acids accumulate in patients on a BCAA-unrestricted diet or during episodes with increased protein catabolism. Early diagnosis and management are...
25 Citations Source Cite
Jacinta L. Chuang25
Estimated H-index: 25
(University of Texas Southwestern Medical Center),
R. Max Wynn26
Estimated H-index: 26
+ 5 AuthorsDavid T. Chuang32
Estimated H-index: 32
Abstract Maple syrup urine disease (MSUD) results from mutations affecting different subunits of the mitochondrial branched-chain α-ketoacid dehydrogenase complex. In this study, we identified seven novel mutations in MSUD patients from Israel. These include C219W-α (TGC to TGG) in the E1α subunit; H156Y-β (CAT to TAT), V69G-β (GTT to GGT), IVS 9 del[-7:-4], and 1109 ins 8bp (exon 10) in the E1β subunit; and H391R (CAC to CGC) and S133stop (TCA to TGA) affecting the E2 subunit of the branched-ch...
38 Citations Download PDF Cite
E. Simon2
Estimated H-index: 2
(University of Düsseldorf),
N. Flaschker1
Estimated H-index: 1
(University of Düsseldorf)
+ 2 AuthorsUdo Wendel35
Estimated H-index: 35
(University of Düsseldorf)
Background: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the patients suffer from non-classic variant forms of MSUD of different clinical severity. Aim: Up to now variant cases have mostly been published as individual case reports; the aim of this study was to give a comparative description of 16 individuals (aged...
39 Citations Source Cite
Hsiang-Po Huang21
Estimated H-index: 21
(National Taiwan University),
Kai-Lin Chu1
Estimated H-index: 1
(National Taiwan University)
+ 4 AuthorsWuh-Liang Hwu39
Estimated H-index: 39
(National Taiwan University)
Background/Purpose: Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified. Methods: Between August 2001 and July 2004, 199,922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center. Results: In total, 29 cases of inborn errors of metabolism were detected. The overall prevalence was one per 6894 births. The ...
18 Citations Source Cite
  • References (19)
  • Cited By (5)
Krystyna A. Skibniewska5
Estimated H-index: 5
(University of Warmia and Mazury in Olsztyn),
J. Zakrzewski1
Estimated H-index: 1
(University of Warmia and Mazury in Olsztyn)
+ 5 AuthorsJ. Szarek1
Estimated H-index: 1
Skibniewsk K.A., Zakrzewski J., Klobukowski J., Bialowiąs H., Mickowska B., Guziur J., Walczak Z., Szarek J. (2013): Nutritional value of the protein of consumer carp Cyprinus carpio L. Czech J. Food Sci., 31: 313–317. The nutritional value of the protein of carp from breeding technologies currently employed in Poland (semi-extensive, low-intensive and high-intensive ones) was evaluated. The total protein content was from 16.9% to 18.6% and did not diverge from the content of this nutrient in ot...
4 Citations Download PDF Cite
M.L. Couce1
Estimated H-index: 1
,
F. Ramos1
Estimated H-index: 1
+ 5 AuthorsA. García-Cazorla1
Estimated H-index: 1
Abstract Maple syrup urine disease (MSUD) is a rare metabolic disorder for which the newborn screening (NBS) is possible but it has not been yet implemented for most Spanish regions. In the present study, we assess the clinical features and outcome of 14 MSUD Spanish patients with similar treatment protocol diagnosed either by NBS or by clinical symptoms. Eight patients were detected by NBS, four classic and four moderate MSUD. The average age at detection was 4.6 days, the mean plasmatic concen...
9 Citations Source Cite
Kevin A. Strauss33
Estimated H-index: 33
(Franklin & Marshall College),
Bridget Wardley2
Estimated H-index: 2
(New York University)
+ 6 AuthorsD. Holmes Morton14
Estimated H-index: 14
(Franklin & Marshall College)
Abstract Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain development. Treatment for classical maple syrup urine disease (MSUD) should address this underlying physiology while also protecting children from nutrient deficiencies. Based on a 20-year experience managing 79 patients, we designed a study formula to (1) optimize transport of seven amino acids (Tyr, Trp, His, Met, Thr, Gln, Phe) that compete with branched-chain ...
94 Citations Source Cite
J.R. Alonso-Fernández1
Estimated H-index: 1
(University of Santiago de Compostela),
C. Colón1
Estimated H-index: 1
(University of Santiago de Compostela)
After briefly recalling the main events leading to the establishment of newborn screening programmes, this paper details the early history of their introduction in Spain and sketches their expansion to cover the whole Spanish population. Spain is exceptional in that its screening methods have in general been based on planar chromatographic techniques developed or inspired by Louis I. Woolf, rather than on bacterial inhibition tests, as is illustrated by the practice of the newborn screening labo...
4 Citations Source Cite