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Open AccessRehabilitation for children and adolescents after cancer: importance and implementation in Austria
Until 2018 only adults had access to rehabilitation in Austria, but since then 5 centers for pediatric rehabilitation with different indications have been established with the goal of improving the health of s...
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Article
Open AccessKombinierte Vitamin-D- und Vitamin-K-Supplemente für Kinder und Jugendliche: Nutzen oder Risiko?
Eine tägliche Vitamin-D-Supplementierung für Säuglinge bis zum zweiten erlebten Frühsommer zur Prävention der Rachitis und die Gabe von Vitamin K1 bei Neugeborenen zur Prävention von Vitamin-K-Mangel-Blutungen si...
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Open AccessRehabilitation für Kinder und Jugendliche mit Diabetes in Österreich: Konzept der Arbeitsgruppe Pädiatrische Endokrinologie und Diabetologie Österreich/Österreichische Gesellschaft für Kinder- und Jugendheilkunde
Diabetes ist eine der häufigsten chronischen Stoffwechselerkrankungen im Kindes- und Jugendalter. Die Zahl der Neuerkrankten hat in der letzten Dekade stark zugenommen.
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Mitochondriopathien
Mitochondriopathien zählen zu den häufigsten neurometabolischen Erkrankungen im Kindes- und Jugendalter. Sie sind klinisch äußerst heterogen, der Übergang ins Erwachsenenalter ist fließend. Betroffen sind vor ...
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Living Reference Work Entry In depth
Mitochondriopathien
Mitochondriopathien zählen zu den häufigsten neurometabolischen Erkrankungen im Kindes- und Jugendalter. Sie sind klinisch äußerst heterogen, der Übergang ins Erwachsenenalter ist fließend. Betroffen sind vor ...
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Article
Open AccessNext-Generation-Sequenzierung – Next-Generation-Qualität in der Pädiatrie
Die Exomsequenzierung ermöglicht es, bei immer mehr Patienten mit z. B. Entwicklungsverzögerung den zugrundeliegenden genetischen Defekt zu diagnostizieren. Hierdurch vermehrt sich unser Wissen zur Pathophysio...
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Open AccessClinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...
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Mitochondrial translation requires folate-dependent tRNA methylation
Mammalian mitochondria use folate-bound one-carbon units generated by the enzyme SHMT2 to methylate tRNA, and this modification is required for mitochondrial translation and thus oxidative phosphorylation.
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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinic...
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Mitochondriopathien – neue Trends in Diagnostik und Therapie
Mitochondriopathien sind eine klinisch, biochemisch und genetisch ausgesprochen heterogene Krankheitsgruppe mit Mutationen in mehr als 250 Genen, wobei ein Teil davon im mitochondrialen Genom liegt, der Großte...
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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
FBXL4 deficiency is a recently described disorder of mitochondrial maintenance associated with a loss of mitochondrial DNA in cells. To date, the genetic diagnosis of FBXL4 deficiency has...
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Article
Open AccessSpectrum of combined respiratory chain defects
Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitoc...
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Erratum to: TMEM70 deficiency: long-term outcome of 48 patients
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TMEM70 deficiency: long-term outcome of 48 patients
TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 p...
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Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
The mitochondrial pyruvate oxidation route is a tightly regulated process, which is essential for aerobic cellular energy production. Disruption of this pathway may lead to severe neurometabolic disorders with...
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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
Pyruvate oxidation defects (PODs) are among the most frequent causes of deficiencies in the mitochondrial energy metabolism and represent a substantial subset of classical mitochondrial diseases. PODs are not ...
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Article
Open AccessMutations in TTC19: expanding the molecular, clinical and biochemical phenotype
TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patient...
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Article
Open AccessClinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LC...
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Lipoic acid biosynthesis defects
Lipoate is a covalently bound cofactor essential for five redo...
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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
Increased urinary 3-methylglutaconic acid excretion is a relatively common finding in metabolic disorders, especially in mitochondrial disorders. In most cases 3-methylglutaconic acid is only slightly elevated...
