Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

Abstract

A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.

The Use of Skin Fibroblast Cultures in the Detection of Respiratory Chain Defects in Patients with Lacticacidemia

“…The case we report here is an exception. Although liver-specific cytochrome oxidase deficiency is also rare, we have detected it here in cultured skin fibroblasts (24,25). We have investigated skin fibroblasts from several cases of fatal infanti le cytochrome oxidase deficiency (26).…”

Oxidative Phosphorylation Diseases

“…In 19 biochemically characterized cases which fit our definition of LIMD, the mean age of onset was 3 weeks, with death occurring on the average at 5 months and associated with overwhelming lactic acidosis Rimoldi et al, 1982;Sengers et al, 1984;Bresolin et al, 1985;DiMauro et al , 1980;Heiman-Patterson et al, 1982;Moreadith et al , 1984Moreadith et al , , 1987Boustany et al , 1983;Aprille, 1985;Van Biervliet et al, 1977;Stansbie et al, 1982;Minchom et al, 1983;Muller-Hocker et al, 1983;Trijbels et al , 1983;Robinson et al, 1985Robinson et al, , 1986Zheng et al, 1989). While the clinical course was similar in all cases, only a few patients had a multiorgan pathological or biochemical assessment which could evaluate the extent of tissue dysfunction.…”

“…Ragged-red fibers were described in only five cases (Zheng et al, 1989;Sengers et al, 1984;Zeviani et al, 1985Zeviani et al, , 1986DiMauro et al, 1980). Renal manifestations included De Toni-Fanconi-Fabre syndrome (Van Biervliet et al, 1977;Zeviani et al, 1985;DiMauro et al, 1980;Heiman-Patterson et al, 1982) or a generalized aminoaciduria (Aprille, 1985;Muller-Hocker et al, 1983;Minchom et al, 1983).…”

Cytochrome c Oxidase Deficiency

“…Two forms of myopathy have been described, both presenting soon after birth with severe generalized weakness, respiratory distress, and lactic acidosi s, but each having a very d ifferent course and prognosis. Children with fatal infantile m yopath y have a relentlessly downhill course and die of respiratory failure before I y of age ( 16,(18)(19)(20)(21)(22)(23)(24)(25). Although heart, liver, and brain are clinicall y spared, man y patients have renal disease with glycosuria, phosphaturia, and gene ralized aminoaciduria (De Toni -Fanconi syndrome).…”