ISSN:
1432-1076
Keywords:
Key words: 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 multivitamin 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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