Infantile mitochondrial disorders.

Rosalba Carrozzo, Fiorella Piemonte, Alessandra Tessa, Simona Lucioli, Teresa Rizza, Maria Chiara Meschini, Fabiana Fattori, Filippo M Santorelli

Journal: Bioscience reports 2007;27(1-3):105-12

PMID: 17486440

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Abstract

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.

Address: Molecular Medicine, IRCCS Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.

DOI: 10.1007/s10540-007-9039-y

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MeSH Terms: Brain, Coenzymes, DNA, Mitochondrial, Electron Transport Complex I, Humans, Infant, Leigh Disease, Mitochondrial Diseases, Mutation, Succinate-CoA Ligases, Ubiquinone