ISSN:
1432-1076
Keywords:
Inborn error
;
Hyperammonemia
;
Urea cycle
;
Ornithine carbamyl transferase
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A new case of deficiency of ornithine-carbamyl transferase is reported. To the best of our knowledge, this is the 23rd case (10th case in a male). This new case is conventional as far as the clinical and biological data are concerned. Nevertheless, an original feature must be noted: The enzyme deficiency, while large (2% of the normal), is clinically well tolerated at the age of 9 months with a simple restriction of proteins. A review of the literature shows, in fact, that the other male children showing a deficiency below 5% of normal have all died in the post natal period.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00464614
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