Open AccessPrimary Ornithine Transcarbamylase Deficiency A Case Report and Electron Microscopic Study
Author(s) -
Aida Shinsuke,
Ogata Takesaburo,
Kamota Tomohiro,
Nakamura Norimasa
Publication year - 1989
Publication title -
acta patholigica japonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
ISSN - 0001-6632
DOI - 10.1111/j.1440-1827.1989.tb02461.x
Subject(s) - ornithine transcarbamylase , pathology , ornithine transcarbamylase deficiency , hepatocyte , mitochondrion , cytoplasm , ultrastructure , electron microscope , organelle , glycogen , biology , chemistry , medicine , endocrinology , urea cycle , microbiology and biotechnology , biochemistry , physics , amino acid , arginine , optics , in vitro
Histological and ultrastructural findings obtained upon examination of a liver biopsy specimen from a 2 year old girl with primary ornithine transcarbamylase (OTC) deficiency are presented. The OTC activity in the hepatic tissue of the patient was 7% that of the normal level. Light microscopic observation showed diffusely swollen hepatocytes with pale or empty cytoplasm due to accumulation of glycogen. Neither fat degeneration nor necrosis was evident. Electron microscopy revealed strikingly abnormal hepatocyte mitochondria, which showed marked polymorphism with elongation and enlargement, ring or dumbbell shaped configurations, and irregular distribution and shortening of the cristae. Mitochondria showing degenerative alterations such as swelling and rarefaction, which have been reported in cases of Reye's syndrome, were present, but their number was very small. Other organelles showed no remarkable change. It is suggested that the mitochondrial changes seen in OTC deficiency are essentially different from those in Reye's syndrome, which otherwise is clinically and biochemibcally very similar to OTC deficiency. Acta Pathol Jpn 39: 451 456, 1989.