Abstract
Summary: Deficiency of hepatic ornithine transcarbamylase (EC 2.1.3.3) activity in a 17-month-old female patient is described. Enzyme activity was 11% of the mean control value. Electron microscopic examination of the liver specimen, taken by percutaneous needle biopsy, revealed striking abnormalities of the mitochondria: budlike projections, sausage-link appearance, elongation with short cristae, or the presence of parallel arrays of tubules. These abnormalities do not resemble those seen in Reye's syndrome.
Speculation: Abnormalities of the liver mitochondria in patients with ornithine transcarbamylase deficiency have not previously been observed. The specificity of these abnormalities requires study of further cases.
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Shapiro, J., Schaffner, F., Tallan, H. et al. Mitochondrial Abnormalities of Liver in Primary Ornithine Transcarbamylase Deficiency. Pediatr Res 14, 735–739 (1980). https://doi.org/10.1203/00006450-198005000-00006
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DOI: https://doi.org/10.1203/00006450-198005000-00006
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