Mitochondrial abnormalities of liver in two children with citrullinaemia

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‐micros...

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 20; no. 4; pp. 509 - 516
Main Authors Zamora, S. A., Pinto, A., Scott, R. B., Parsons, H. G.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.08.1997
Springer
Subjects
Aminoacid disorders
Biological and medical sciences
Cell Nucleus - ultrastructure
Child
Child, Preschool
Citrulline - urine
Errors of metabolism
Humans
Liver - pathology
Male
Medical sciences
Metabolic diseases
Metabolism, Inborn Errors - enzymology
Metabolism, Inborn Errors - pathology
Metabolism, Inborn Errors - urine
Microscopy, Electron
Mitochondria, Liver - enzymology
Mitochondria, Liver - ultrastructure
Succinate Dehydrogenase - metabolism
Urea - metabolism
Human
Pathophysiology
Liver
Hepatic disease
Metabolic diseases
Urea cycle
Electron microscopy
Enzymopathy
Genetic disease
Liver failure
Mitochondria
Hepatocyte
Biopsy
Ultrastructure
Citrullinemia
Digestive diseases
Complication
Child
Aminoacid disorder
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005341228486