ISSN:
1432-1076
Keywords:
Cytochrome c-oxidase
;
Mitochondriopathy
;
Proximal tubular acidosis
;
Leigh disease
;
Muscular disease
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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 β-hydroxybutyrate with increased lactate/pyruvate and β-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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01954517
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