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Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Tomáš Honzík, Markéta Tesařová, Johannes A Mayr, Hana Hansíková, Pavel Ješina, Olaf Bodamer, Johannes Koch, Martin Magner, Peter Freisinger, Martina Huemer, Olga Kostková, Rudy van Coster, Stanislav Kmoch, Josef Houštêk, Wolfgang Sperl, Jiří Zeman
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
Grantová podpora
NS9759
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
Zdroj
NLK
ProQuest Central
od 1996-01-01 do Před 6 měsíci
Health & Medicine (ProQuest)
od 1996-01-01 do Před 6 měsíci
Family Health Database (ProQuest)
od 1996-01-01 do Před 6 měsíci
PubMed
20335238
DOI
10.1136/adc.2009.168096
Knihovny.cz E-zdroje
- MeSH
- fenotyp MeSH
- hyperamonemie enzymologie genetika MeSH
- hypospadie enzymologie genetika MeSH
- kojenec MeSH
- kryptorchismus enzymologie genetika MeSH
- lidé MeSH
- membránové proteiny genetika MeSH
- mitochondriální encefalomyopatie enzymologie genetika MeSH
- mitochondriální proteiny genetika MeSH
- mitochondriální protonové ATPasy nedostatek MeSH
- mutace MeSH
- novorozenec MeSH
- retrospektivní studie MeSH
- věk při počátku nemoci MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
OBJECTIVE: Mitochondrial disturbances of energygenerating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. METHODS: Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A-->G mutation in the TMEM70 gene. RESULTS: Severe muscular hypotonia (in 92% of newborns), apnoic spells (92%), hypertrophic cardiomyopathy (HCMP; 76%) and profound lactic acidosis (lactate 5-36 mmol/l; 92%) with hyperammonaemia (100-520 micromol/l; 86%) were present from birth. Ten patients died within the first 6 weeks of life. Most patients surviving the neonatal period had persisting muscular hypotonia and developed psychomotor delay. HCMP was non-progressive and even disappeared in some children. Hypospadia was present in 54% of the boys and cryptorchidism in 67%. Increased excretion of lactate and 3-methylglutaconic acid (3-MGC) was observed in all patients. In four surviving patients, life-threatening hyperammonaemia occurred during childhood, triggered by acute gastroenteritis and prolonged fasting. CONCLUSIONS: ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children.
Children's Hospital Schwabing Technical University Munich Munich Germany
Department of Pediatrics Landeskrankenhaus Bregenz Bregenz Austria
Department of Pediatrics Paracelsus Medical University Salzburg Austria
Department of Pediatrics University Hospital Ghent Ghent Belgium
Citace poskytuje Crossref.org
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