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Hyperammonemia through deficiency of ornithine carbamyl transferase

✍ Scribed by Farriaux, J. P. ;Dhondt, J. L. ;Cathelineau, L. ;Ratel, J. ;Fontaine, G.

Book ID
104780905
Publisher
Springer-Verlag
Year
1974
Weight
894 KB
Volume
118
Category
Article
ISSN
0044-2917

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✦ Synopsis

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~o of the normal), is clinically welt 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~o of normal have all died in the post natal period.

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Attempted dietary treatment of a boy wit
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency
✍ C. Heiden; H. D. Bakker; J. Desplanque; M. Brink; P. K. Bree; S. K. Wadman 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 722 KB

Dietary treatment of a male patient suffering from the delayed-onset type of OCT deficiency was attempted. Control of the hyperammonemia was attempted by restriction of protein intake, guided by monitoring the plasma ammonia and regular checking of the serum amino acid levels. The influence of suppl