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HEREDITARY ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Author(s) -
SAUDUBRAY J. M.,
CATHELINEAU L.,
LAUGIER J. M.,
CHARPENTIER C.,
LEJEUNE J. A.,
MOZZICONACCI P.
Publication year - 1975
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1975.tb03866.x
Subject(s) - ornithine transcarbamylase deficiency , medicine , ornithine , coma (optics) , pediatrics , ornithine carbamoyltransferase , genetics , urea cycle , biology , physics , amino acid , arginine , optics
Saudubray, J. M., Cathelineau, L., Laugier, J. M., Charpentier, C, Lejeune, J. A. and Mozzionacci, P. (Clinique Médicale Infantile, Hôpital des Enfants‐Malades, Paris, Laboratoire du Pr. C. Polonovski, Hôpital Trousseau, Paris, and Laboratoire du Pr. Lemonnier, Hôpital du Kremlin‐Bicêtre, Le Kremlin‐Bicêtre, France). Hereditary ornithine trans‐carbamjlast deficiency. Report of two male cases with residual enzymatic activity. Acta Paediatr Scand, 64:464, 1975.–The authors report two male cases of liver ornithine carbarn} 1 transferase deficiency. In one the disease occurred at 8 years of age with hyperam‐moniemic coma leading to death in 48 hours. In the second case, symptoms appeared on the sixth day of life but the outcome was favorable. The child is normal at 15 months. In both cases, there was a residual 6–10 % OCT activity. These observations are similar to two other male cases in the literature and are different from the male neonatal fatal form in which the deficiency is virtually total. They underline the genetically heterogeneous nature of OCT deficiencies and the fact that in this X‐Iransmitted trait, hemizygotes can preserve a functional enzymatic activity compatible with life.