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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12075%21RIV13-MZ0-00064165
rdf:type
n11:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1007/s10545-011-9440-3
dcterms:description
Mitochondrial disorders (MD) may manifest in neonates, but early diagnosis is difficult. In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between specific mitochondrial diseases and their symptoms with the aim of optimizing diagnosis. Retrospective clinical and laboratory data were evaluated in 461 patients (331 families) with confirmed MD. The neonatal onset of MD was reported in 28% of the patients. Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40%, neonatal seizures in 16%, Leigh syndrome in 15%, and elevated lactate level in 87%. Hyperammonemia was observed in 22 out of 52 neonates. Complex I deficiency was identified in 15, complex III in one, complex IV in 23, complex V in 31, combined deficiency of several complexes in 53, and PDH complex deficiency was identified in six patients. Molecular diagnosis was confirmed in 49 cases, including a newborn with a 9134A > G mutation in the MTATP6 gene, which has not been described previously. The most significant finding is the high incidence of neonatal cardiomyopathy and hyperammonemia. Based on our experience, we propose a diagnostic flowchart applicable to critically ill neonates suspicious for MD. This tool will allow for the use of direct molecular genetic analyses without the need for muscle biopsies in neonates with Alpers, Barth, MILS and Pearson syndromes, SCO1, SCO2, TMEM70, ATP5E, SUCLG1 gene mutations and PDH complex deficiency. Mitochondrial disorders (MD) may manifest in neonates, but early diagnosis is difficult. In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between specific mitochondrial diseases and their symptoms with the aim of optimizing diagnosis. Retrospective clinical and laboratory data were evaluated in 461 patients (331 families) with confirmed MD. The neonatal onset of MD was reported in 28% of the patients. Prematurity, intrauterine growth retardation and hypotonia necessitating ventilatory support were present in one-third, cardiomyopathy in 40%, neonatal seizures in 16%, Leigh syndrome in 15%, and elevated lactate level in 87%. Hyperammonemia was observed in 22 out of 52 neonates. Complex I deficiency was identified in 15, complex III in one, complex IV in 23, complex V in 31, combined deficiency of several complexes in 53, and PDH complex deficiency was identified in six patients. Molecular diagnosis was confirmed in 49 cases, including a newborn with a 9134A > G mutation in the MTATP6 gene, which has not been described previously. The most significant finding is the high incidence of neonatal cardiomyopathy and hyperammonemia. Based on our experience, we propose a diagnostic flowchart applicable to critically ill neonates suspicious for MD. This tool will allow for the use of direct molecular genetic analyses without the need for muscle biopsies in neonates with Alpers, Barth, MILS and Pearson syndromes, SCO1, SCO2, TMEM70, ATP5E, SUCLG1 gene mutations and PDH complex deficiency.
dcterms:title
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
skos:prefLabel
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
skos:notation
RIV/00064165:_____/12:12075!RIV13-MZ0-00064165
n11:predkladatel
n12:ico%3A00064165
n3:aktivita
n16:P
n3:aktivity
P(1M0520), P(NS10561), P(NS9782), P(NT11186)
n3:cisloPeriodika
5
n3:dodaniDat
n18:2013
n3:domaciTvurceVysledku
n7:4540344 n7:8943222 n7:1045261 n7:9177981 n7:5315263 n7:3610993 n7:6270875 n7:7786301
n3:druhVysledku
n17:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n8:predkladatel
n3:idSjednocenehoVysledku
153748
n3:idVysledku
RIV/00064165:_____/12:12075
n3:jazykVysledku
n9:eng
n3:klicovaSlova
cytochrome-c-oxidase; pyruvate-dehydrogenase deficiency; respiratory-chain deficiencies; acute metabolic decompensation; blue-native-electrophoresis; pediatric-patients; barth-syndrome; muscle mitochondria; skeletal-muscle; dna depletion
n3:klicoveSlovo
n4:cytochrome-c-oxidase n4:acute%20metabolic%20decompensation n4:skeletal-muscle n4:pyruvate-dehydrogenase%20deficiency n4:barth-syndrome n4:pediatric-patients n4:muscle%20mitochondria n4:dna%20depletion n4:blue-native-electrophoresis n4:respiratory-chain%20deficiencies
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[D82BE71838CF]
n3:nazevZdroje
Journal of Inherited Metabolic Disease
n3:obor
n10:CE
n3:pocetDomacichTvurcuVysledku
8
n3:pocetTvurcuVysledku
11
n3:projekt
n6:NS10561 n6:1M0520 n6:NT11186 n6:NS9782
n3:rokUplatneniVysledku
n18:2012
n3:svazekPeriodika
35
n3:tvurceVysledku
Veselá, Kateřina Mayr, J. Tesařová, Markéta Hansíková, Hana Wenchich, László Sperl, W. Honzík, Tomáš Szentiványi, Karol Magner, Martin Ješina, Pavel Zeman, Jiří
n3:wos
000308247000002
s:issn
0141-8955
s:numberOfPages
11