PMID: 6434836Jan 1, 1984Paper

Long term outcome of organic acidurias: survey of 105 French cases (1967-1983)

Journal of Inherited Metabolic Disease
R Rousson, P Guibaud

Abstract

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.

Citations

Jul 25, 2009·Journal of Inherited Metabolic Disease·E Martín-HernándezR H Lachmann
Apr 8, 2006·Journal of Inherited Metabolic Disease·Carel le RouxPhilip J Lee
Apr 8, 2006·Journal of Inherited Metabolic Disease·C le RouxP Lee
Oct 23, 2008·Pediatric Neurology·Ni-Chung LeeWuh-Liang Hwu
Oct 30, 2007·Molecular Genetics and Metabolism·Peter J Mc GuireClaude Sansaricq
May 26, 2016·Paediatric Anaesthesia·Chiaki BabaYasuyuki Suzuki
May 12, 2015·American Journal of Medical Genetics. Part a·Yiouli P KtenaCharles P Venditti
Feb 15, 2019·Orphanet Journal of Rare Diseases·Tímea AlmásiTamás Zelei
Oct 8, 1998·Journal of Inherited Metabolic Disease·A LarnaoutF Hentati
Feb 6, 2021·Medicina·Agnieszka KowalikJolanta Sykut-Cegielska

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