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Digitale Medien

Hyperammonemia through deficiency of ornithine carbamyl transferase (1974)

Farriaux, J. P. ; Dhondt, J. L. ; Cathelineau, L. ; [weitere]

Springer

European journal of pediatrics 118 (1974), S. 231-247

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Details

ISSN: 1432-1076

Schlagwort(e): Inborn error ; Hyperammonemia ; Urea cycle ; Ornithine carbamyl transferase

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00464614

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