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Introduction New Facets in Urea Cycle Disorders INTRODUCTION A.
Lowenthal Laboratory of Neurochemistry, Born-Bunge Foundation,
Universitaire Instelling Antwerpen, Wilrijk, Belgium This occasion
is by no means the first meeting devoted to urea cycle diseases. It
has been preceeded by meetings held in the Netherlands and in
Spain. Accordingly the justification for a further meeting is not
immediately evident. The reason for it is that the problems related
to urea cycle diseases are developing fast, as instanced inter alia
by I) the relation observed between hyperornithinemia and gyrate
atrophy and the therapeutic acquisitions which result from it 2)
the treatment of hyperammonemias. If the diagnosis of urea cycle
disease is easily established by following standard principles and
techniques, i.e. by means of amino acid analysis, with or without
prior loading tests, by ammonemia measurement and by enzyme
determination, also if these operations produce clear and precise
conclusions in the matter of genetics and preventive medicine, yet
many physiopathological questions remain unanswered and a number of
therapeutic problems of these remain unsolved.
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