Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I

The basis for the benefit of early treatment in urea-cycle defects might be an increase in intramitochondrial mutant enzyme in hepatocytes in the postnatal period. In two siblings with carbamyl phosphate synthetase I (CPS I) deficiency, immunoreactive CPS I was greatly reduced in the liver and no re...

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Veröffentlicht in:	The Lancet (British edition) 1995-12, Vol.346 (8989), p.1530-1531
Hauptverfasser:	Zimmer, K-P., Koch, H.G., Rossi, R., Deufel, T., Ullrich, K., Harms, E., Schmid, K.W., Naim, H.Y., Colombo, J-P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - metabolism Amino Acid Metabolism, Inborn Errors - mortality Amino Acid Metabolism, Inborn Errors - therapy Aminoacid disorders Ammonia - blood Biological and medical sciences Biopsy Blotting, Western Carbamoyl-Phosphate Synthase (Ammonia) - analysis Carbamoyl-Phosphate Synthase (Ammonia) - deficiency Combined Modality Therapy Enzymatic activity Enzymes Errors of metabolism Female Humans Infant Infant, Newborn Liver Liver - pathology Medical research Medical sciences Metabolic diseases Mitochondria, Liver - chemistry Mitochondria, Liver - enzymology Siblings Time Factors Urea
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