Infantile mitochondrial disorders.
Mitochondrial disorders encompass any medical specialty and affect patients at any age. Likewise, the spectrum of clinical and genetic signatures of these disorders is ample, making a precise diagnosis difficult. We will report some of the major clinical phenotypes observed in infancy, their underlining molecular features, and will propose an approach to reach a more complete diagnosis.
Carrozzo
Rosalba
R
Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
Piemonte
Fiorella
F
Tessa
Alessandra
A
Lucioli
Simona
S
Rizza
Teresa
T
Meschini
Maria Chiara
MC
Fattori
Fabiana
F
Santorelli
Filippo M
FM
D001921:Brain / Q000378:metabolism / Q000473:pathology; D003067:Coenzymes / Q000172:deficiency; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D013389:Succinate-CoA Ligases / Q000172:deficiency / Q000235:genetics; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency
D003067:Coenzymes; D004272:DNA, Mitochondrial; D014451:Ubiquinone; D013389:Succinate-CoA Ligases; C518788:SUCLA2 protein, human; D042967:Electron Transport Complex I; C024989:coenzyme Q10