Læknablaðið - 15.08.1991, Page 42

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LÆKNABLAÐIÐ
of various types. Characteristic EEG pattems
were found in Alpers, MERRF and MELAS
syndromes.
Conclusions: Mitochondrial disorders are
important causes of central nervous system
and neuromuscular disease in children
with hyperlactatemia. Identification of
defects at the DNA level and delineation of
phenotypic expression with combined clinical,
morphological and biochemical methods
are fundamental for rational diagnosis,
classification and therapy in these conditions.
In clinical routine, repeated EEG recordings
could for certain syndromes be a valuable
complementary diagnostic tool.
Key words: Lactic acidosis, mitochondria,
oxidative phosphorylation, metabolic brain
diseases, muscular diseases, cardiomyopathy,
electroencephalography.