Abstract
A 890 g boy was born by caesarean section because of intrauterine distress and growth retardation at 29 weeks of gestation. He developed tyrosyluria, dicarboxylic aciduria, hyperammonemia, and lactic acidosis (12 mM). Blood lactate was not influenced by fasting, glucose, biotine,thiamine,dietic measures.With 1.5 g vitamin C/day lactate is 2 to 5 mM.Clinical features are failure to thrive,muscular hypotonia,spasticity and mental retardation.Open liver and muscle biopsies at age 8 months showed morphological evidence of lipid storage and abnormal mitochondria.In serial studies in isolated mitochondria respiratory rates were decreased with all substrates except ascorbate+TMPD.Residual succinate oxidation was little inhibited by antimycin.Succinate cyt c reductase activity was reduced in liver(258nmol cyt c/min;control 3088±536,n=12) and muscle homogenate (0;control 1634±152,n=8).Cyt b and aa3 were present in normal amounts in muscle mitochondria.Cyt c+cl content was decreased (128 pmol/mg protein;control 419±42).The normal capability to oxidise ascorbate+TMPD in combination with a slow reduction of cyt b and c+c1 by succinate+KCN indicates a defective cyt c1, meaning that all cyt c+cl measured is probably cyt c. Carnitine was decreased in muscle (1.86 μmol/g wet weight;controls 3.96±0.09) and liver (1.33;control 2.86).The patient is alive at 32 months of age, when a second muscle biopsy was taken.
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Przyrembel, H., Scholte, H., Busch, H. et al. Cytochrome (cyt) cl deficiency in liver and muscle mitochondria. Pediatr Res 18, 797 (1984). https://doi.org/10.1203/00006450-198408000-00036
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DOI: https://doi.org/10.1203/00006450-198408000-00036
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