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Hereditary Hyperammonaemic Syndromes — A Six Year Experience
Author(s) -
HAAN E. A.,
DANKS D. M.,
HOOGENRAAD N. J.,
ROGERS J. G.
Publication year - 1979
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1979.tb01212.x
Subject(s) - medicine , pediatrics , genetic counseling , ornithine transcarbamylase , disease , prenatal diagnosis , genetic testing , ornithine transcarbamylase deficiency , ornithine carbamoyltransferase , inherited disease , pregnancy , fetus , genetics , ornithine , urea cycle , amino acid , arginine , biology
Haan, E. A., Danks, D. M., Hoogenraad, N. J., and Rogers, J. G. (1979).Aust. Paediatr. J. , 15, 142–146. Hereditary hyperammonaemic syndromes. A six year experience. Over a six year period (1973–1978) we have managed 13 children with hereditary hyperammonaemia. Nine of these had ornithine transcarbamylase deficiency. Early recognition and treatment of hyperammonaemia is necessary for salvage of infants capable of survival. In children whose disease is lethal, aetiologic diagnosis should be made for the purposes of genetic counselling, carrier detection and prenatal diagnosis.