Abstract
The case of a 4 yr.old boy with partial deficiency of hepatic OTC is presented.This X-linked dominant disease is lethal,for males,in the newborn period.Cur patient presented with lethargy, ataxia and irritability, not preceded by signs of viral infection. Laboratory tests were normal with the exception of metabolic acidosis,hyperammonemia(257γ/100cc)and oroticaeiduria(4680γ/mg oreat.).The clinical picture progressively worsened to coma,and death occured on the 13th day of hospitalization.A liver biopsy on the 12th day showed a high residual OTC activity(10,9% of controls).All the other urea cycle enzymes were normal.No fatty liver degeneration was present,but an E.M. study showed the mitochondria to be rounded with loose matrix and only a few short oristae.An E.K.kidney biopsy examination showed fatty degeneration of renal tubules,but no mitochondrial involvement.Reye's syndrome was ruled out for various reasons subh as the atypical clinical course,normal liver function tests,delayed death and absence of fatty liver degeneration.Abnormalities of liver mitochondria have not been previously reported in male patients.The claims that mitoohondrial abnormalities support the diagnosis of Reye's syndrome versus OTC deficiency have to be reconsidered.
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Longhi, R., Buttè, C., Valsasina, R. et al. 1148 MITOCHONDRIAL ABNORMALITISS IN A MALE WITH ORNITHINE TRANSCARBANILASE DEFICIENCY (CTC). Pediatr Res 15 (Suppl 4), 634 (1981). https://doi.org/10.1203/00006450-198104001-01174
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DOI: https://doi.org/10.1203/00006450-198104001-01174
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