[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].
Mitochondrial diseases in children are more frequently caused by mutations in nuclear DNA then in mtDNA. Special clinical phenotypes are associated with the mutations in SURF1 gene, in SCO2 gene and with mtDNA depletion syndromes. Leigh syndrome is the most common clinical presentation of various mitochondrial disorders during childhood. Elevation of lactate in blood, cerebrospinal fluid and urine is a simple biochemical marker of mitochondrial disorders but its specificity and sensitivity are low. Biochemical investigation of muscle biopsy and search for mitochondrial mutations remain a gold standard in the diagnosis. The standarized diagnostic criteria to establish level of diagnostic certainty (possible, probable, definite) are proposed to be used in practice; these include clinical features, neuroimaging and muscle biopsy investigations. Further research directions to improve our understanding of mitochondrial pathologies in children are suggested.
Pronicka
Ewa
E
Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik-Centrum Zdrowia Dziecka, Warszawa. e.pronicka@czd.pl
Piekutowska-Abramczuk
Dorota
D
Pronicki
Maciej
M
D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D002352:Carrier Proteins / Q000032:analysis; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D008875:Middle Aged; D008928:Mitochondria / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D024101:Mitochondrial Proteins / Q000032:analysis / Q000378:metabolism; D018832:Molecular Chaperones; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation
D015415:Biomarkers; D002352:Carrier Proteins; D004272:DNA, Mitochondrial; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human; C092928:Surf-1 protein