Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency.
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.
von Döbeln
U
U
Department of Clinical Chemistry, Huddinge University Hospital, Sweden.
Wibom
R
R
Ahlman
H
H
Nennesmo
I
I
Nyctelius
H
H
Hultman
E
E
Hagenfeldt
L
L
D000140:Acidosis, Lactic / Q000209:etiology*; D000255:Adenosine Triphosphate / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency*; D012131:Respiratory Insufficiency / Q000209:etiology*
D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate; D016660:NAD(P)H Dehydrogenase (Quinone)