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Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
Author(s) -
Fois A.,
Borgogni P.,
Cioni M.,
Molinelli M.,
Frezzotti R.,
Bardelli A. M.,
Lasorella G.,
Barberi L.,
Durand P.,
Di Rocco M.,
Romano C.,
Parini R.,
Corbetta C.,
Giovannini M.,
Riva E.,
Balato N.,
Sartorio R.,
Mollica F.,
Zammarchi E.,
Battini M. L.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799723
Subject(s) - tyrosinemia , microcephaly , presentation (obstetrics) , pediatrics , medicine , tyrosine , surgery , biology , biochemistry
Conclusions Type II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be correlated with the higher values of tyrosine. Enzyme studies have been refused in all patients. Treatment with a low tyrosine diet has been successful when accepted: since in many patients the diagnosis was made rather late, it is not possible to evaluate the results of the diet for the prevention of neuromotor retardation.