11 Result(s)
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Article
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 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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Article
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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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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Article
Open AccessPropionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is s...
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Article
Open AccessLow aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma
Succinate dehydrogenase (SDH) has been associated with carcinogenesis in pheochromocytoma and paraganglioma. In the present study we investigated components of the oxidative phosphorylation system in human neu...
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Article
Reduced Respiratory Control with ADP and Changed Pattern of Respiratory Chain Enzymes as a Result of Selective Deficiency of the Mitochondrial ATP Synthase
The FoF1-ATPase, a multisubunit protein complex of the inner mitochondrial membrane, produces most of the ATP in mammalian cells. Mitochondrial diseases as a result of a dysfunction of ATPase can be caused by mut...
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Article
Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection
ABSTRACT: We investigated two patients with an atypical (mild) form of dihydropteridine reductase (DHPR) deficiency. Both responded to the loading test with tetrahydrobiopterin; their plasma phenylalanine leve...
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Article
ODD-NUMBERED LONG-CHAIN FATTY ACIDS IN ERYTHROCYTE MEMBRANE LIPIDS AND PROPIONIC ACID IN PLASMA FOR METABOLIC CONTROL OF PATIENTS WITH PROPIONIC ACIDAEMIA
In patients with propionic acidaemia (PA) and methylmalonic acidaemia (MMA) the increased concentration of propionyl-CoA in cells leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFA) in...
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Article
147 POSTNATAL DEVELOPMENT OF PYRUVATE OXIDATION IN SKELETAL MUSCLE OF THE RAT
Age dependency of enzymes involved in the energy generating system was investigated in 600 g supernatants of quadriceps muscle from rats of different ages. (14-C) pyruvate oxidation rates (± ADP) increased a sign...
