Ultrastructure of hepatic mitochondria in a child with hyperornithinemia,hyperammonemia, and homocitrullinuria

Ultrastructural studies of hepatic tissue obtained at biopsy from a nine year old severely retarded boy with hyperornithinemia, hyperammonemia, and homocitrullinuria showed mitochondria of bizarre shapes and unusual internal features. Among the latter were tubules extending throughout the length of the large mitochondria that on cross section had a rosette-like arrangement; the presence of a periodic, approximately 300thick, sievelike membrane interposed between the tubules and the inner mitochondrial membrane; and “bulges” of mitochondrial matrix occasionally formed between these two membranes.Since to be metabolized ornithine must enter the mitochondria, the hyperornithinemia is regarded as a reflection of its inability to reach the mitochondrial interior. It is speculated that among other possible causes, the unusual sievelike membrane may be the barrier to ornithine's access to the mitochondrion.