title: Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency.
abstract: 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.
authors.affiliation: Department of Clinical Chemistry, Huddinge University Hospital, Sweden.
authors.forename: U
authors.initials: U
authors.lastname: von Döbeln
authors.forename: R
authors.initials: R
authors.lastname: Wibom
authors.forename: H
authors.initials: H
authors.lastname: Ahlman
authors.forename: I
authors.initials: I
authors.lastname: Nennesmo
authors.forename: H
authors.initials: H
authors.lastname: Nyctelius
authors.forename: E
authors.initials: E
authors.lastname: Hultman
authors.forename: L
authors.initials: L
authors.lastname: Hagenfeldt
mesh_terms: 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*
chemical_list: D004272:DNA, Mitochondrial; D000255:Adenosine Triphosphate; D016660:NAD(P)H Dehydrogenase (Quinone)