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Long term outcome of organic acidurias: Survey of 105 French cases (1967–1983)
Author(s) -
Rousson R.,
Guibaud P.
Publication year - 1984
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/bf03047366
Subject(s) - maple syrup urine disease , methylmalonic aciduria , pediatrics , medicine , newborn screening , methylmalonic acid , metabolic disease , urine , intensive care medicine , vitamin b12 , endocrinology , chemistry , biochemistry , leucine , amino acid
The French experience in the long term follow‐up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement in the outcome of such disorders over the last 15 years. In MSUD, while early diagnosis and early management remain a basic requirement, intellectual development did not improve as much as expected. In propionic and methylmalonic acidaemia modern treatment does not prevent a fatal outcome in the classical neonatal forms. It should be also emphasized that in the rare cases where a coenzyme deficiency has been demonstrated, vitamin therapy is very often ineffective in vivo.