Article
Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency.
Acta paediatrica (Oslo, Norway : 1992) - 1 Dec 1993
von Döbeln U, Wibom R, Ahlman H, Nennesmo I, Nyctelius H, Hultman E, Hagenfeldt L
Abstract excerpt
We present a newborn boy who died after 53 days of life in respiratory failure with lactic acidosis. Analysis of skeletal muscle mitochondria demonstrated a combined defect in complexes I and IV of the respiratory chain. The boy had severe muscle hypotonia but no signs of encephalopathy, illustrating the variation in multi-organ presentation of mitochondrial defects.
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