title: Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.
abstract: We report on a boy who developed proximal renal tubular acidosis with loss of carnitine at the age of about 6 months. A few months later he began to suffer from progressive muscular weakness and neurological disturbances. Blood biochemistry showed elevated lactate and beta-hydroxybutyrate with increased lactate/pyruvate and beta-hydroxybutyrate/acetoacetate ratios. A high urinary excretion of lactate and citric acid cycle intermediates was found. These results indicated a defect of the mitochondrial respiratory chain. Analysis of biopsy material from skeletal muscle revealed low activities of all respiratory chain complexes. In muscle and fibroblasts cytochrome c-oxidase (complex IV) was absent. Despite high dose multi-vitamin therapy the boy died at the age of 30 months from central respiratory failure. At autopsy the neuropathological diagnosis of Leigh disease was made.
authors.affiliation: Department of Paediatric Nephrology and Metabolic Disorders, Children's Hospital, Hannover Medical School, Germany.
authors.forename: A M
authors.initials: AM
authors.lastname: Das
authors.forename: S
authors.initials: S
authors.lastname: Schweitzer-Krantz
authors.forename: D J
authors.initials: DJ
authors.lastname: Byrd
authors.forename: J
authors.initials: J
authors.lastname: Brodehl
mesh_terms: D000141:Acidosis, Renal Tubular / Q000209:etiology* / Q000378:metabolism; D001927:Brain Diseases / Q000209:etiology / Q000378:metabolism; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000378:metabolism; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000097:blood / Q000150:complications* / Q000378:metabolism; D008297:Male; D017240:Mitochondrial Myopathies / Q000209:etiology / Q000378:metabolism; D010088:Oxidoreductases / Q000172:deficiency
chemical_list: D010088:Oxidoreductases; D003576:Electron Transport Complex IV