Ultrastructural pathology in congenital defects of the urea cycle: Ornithine transcarbamylase and carbamylphosphate synthetase deficiency

1981 ◽  
Vol 393 (3) ◽  
pp. 321-331 ◽  
Author(s):  
Arthur Zimmermann ◽  
Claude Bachmann ◽  
Jean -Pierre Colombo
Keyword(s):  
Urea Cycle ◽  
Ornithine Transcarbamylase ◽  
Congenital Defects ◽  
Synthetase Deficiency ◽  
Ultrastructural Pathology ◽  
Carbamylphosphate Synthetase

Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency

2013 ◽  
Vol 109 (3) ◽  
pp. 251-254 ◽  
Author(s):  
Hironori Nagasaka ◽  
Tohru Yorifuji ◽  
Hiroto Egawa ◽  
Ayano Inui ◽  
Tomoo Fujisawa ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency

Introduction to Urea Cycle Symposium

PEDIATRICS ◽  
1981 ◽  
Vol 68 (2) ◽  
pp. 271-272
Author(s):  
Richard Koch
Keyword(s):  
Metabolic Diseases ◽  
Urea Cycle ◽  
Medical Center ◽  
Ammonia Level ◽  
Enzyme Analysis ◽  
Clinical Impression ◽  
University Of Southern California ◽  
High Risk Infants ◽  
Carbamylphosphate Synthetase ◽  
Argininosuccinic Acid

When Donough O'Brien reviewed the field of metabolic diseases in 1965, he discussed disorders implicating carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinic acid (ASA) synthetase, and argininosuccinic acid lyase. Arginase defects had not yet been encountered. Several cases of argininosuccinic aciduria had been reported, but only single cases of CPS, OTC, and ASA synthetase defects had been described. The succeeding 15 years have seen much progress in this field, much of it reflecting the efforts of individuals participating in this program. My first contact with disorders of the urea cycle was in 1976 when a suspected OTC deficiency in a female infant was identified by Dr Kenneth Shaw, for a colleague of ours at the University of Southern California Medical Center. I was asked to help with the care of that infant, who died many months later of meningitis. Largely due to Ken's indefatigable efforts in screening high-risk infants for metabolic diseases, we have seen various urea cycle defects identified in several other infants. However, we have sometimes encountered the unexpected in attempting to confirm the clinical diagnosis by enzyme analysis. The following comments on two patients exemplify the situation. Patient C.S. was in a coma on admission; his blood ammonia level was 895 µg/100 ml. Urinary orotic acid levels were elevated and our clinical impression was that the patient had a variant of an OTC defect. Analysis of the liver biopsy specimen revealed 35% CPS, 42% OTC, 24% ASA synthetase, 100% ASA lyase, and 31% arginase. Patient N.G. was born in a nearby medical center and shortly thereafter became lethargic, vomited, and lapsed into a coma.

Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2

2007 ◽  
Vol 39 (3) ◽  
pp. 555-564 ◽  
Author(s):  
Demetra Mavri-Damelin ◽  
Simon Eaton ◽  
Leonard H. Damelin ◽  
Myrddin Rees ◽  
Humphrey J.F. Hodgson ◽  
...  
Keyword(s):  
Cell Line ◽  
Urea Cycle ◽  
Ornithine Transcarbamylase ◽  
Arginase I ◽  
Hepatoblastoma Cell Line

A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatablemRNA

1984 ◽  
Vol 7 (3) ◽  
pp. 104-106 ◽  
Author(s):  
L. Graf ◽  
P. McIntyre ◽  
N. Hoogenraad ◽  
G. Brown ◽  
E. A. Haan
Keyword(s):  
Synthetase Deficiency ◽  
Carbamylphosphate Synthetase
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