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, illustra...
Topics
- Acidosis, Lactic
- Adenosine Triphosphate
- DNA, Mitochondrial
- Humans
- Infant
- Infant, Newborn
- Male
- Mitochondria, Muscle
- Mutation
- NAD(P)H Dehydrogenase (Quinone)
- Respiratory Insufficiency