Premium
Mitochondrial abnormalities of liver in two children with citrullinaemia
Author(s) -
Zamora S. A.,
Pinto A.,
Scott R. B.,
Parsons H. G.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005341228486
Subject(s) - urea cycle , mitochondrion , liver biopsy , paracrystalline , context (archaeology) , biopsy , mitochondrial matrix , pathology , ultrastructure , biology , medicine , chemistry , biochemistry , arginine , cytosol , enzyme , paleontology , amino acid , crystallography
Abstract Citrullinaemia is a rare inborn error of urea‐cycle metabolism. Two affected children are reported in whom progressive metabolic instability suggested the possibility of hepatopathy or an ongoing hepatic mitochondrial injury. A percutaneous liver biopsy was performed in each patient. Electron‐microscopic findings were similar in both cases. Approximately 20% of the mitochondria were abnormally enlarged with paracrystalline inclusions and electron‐dense bodies of different sizes and shapes present in the matrix. The specificity of these findings is discussed in the context of previous reports of ultrastructural abnormalities in the hepatocytes of patients with inborn errors of the urea cycle. It is speculated that the mitochondrial abnormalities in citrullinaemia may be related to the accumulation of citrulline in the mitochondria which may eventually manifest as metabolic instability.