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Inherited Disorders of Vitamins and Cofactors - Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984 (Paperback, 1985 ed.)
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Inherited Disorders of Vitamins and Cofactors - Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984 (Paperback, 1985 ed.)
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together with short communications from members to In 1972 the 10th
Annual Symposium of the Society for the provide a valuable overview
of the current status of this Study ofInborn Errors of Metabolism
was held in Cardiff field. The difficulty in establishing an uneq
uivocal clinical and the proceedings published in 1973. The meeting
was devoted to the treatment of inborn errors of metabolism;
response to vitamin treatment was discussed by Dr in particular the
dietary treatment of phenylketonuria Leonard. The papers on
biotin-responsive combined and vitamin responsive disorders were
reviewed. These carboxylase deficiency presented by Drs Bartlett,
Wolf two areas have seen notable advances in the intervening and
Baumgartner emphasized the widely differing years. It has become
apparent that a number of variants of mechanisms which may
underline apparently similar PKU are due to defective cofactor
metabolism, and, clinical responses. In particular biotinidase
deficiency appears to be a unique defect of cofactor recycling.
indeed, some patients refractory to simple dietary restriction of
phenylalanine respond to the adminis- Riboflavin, thiamine, and
pyridoxine responsive disor- tration of the phenylalanine
hydroxylase cofactor ders were succinctly reviewed by Drs
Gregersen, Duran and Fowler, again interspersed with relevant short
biopterin or related compounds. Biopterin, normally communications
from members. Two papers by Drs synthesized de 110W, in some
individuals has become a *vitamin'.
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