Your browser doesn't support javascript.
loading
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.
Touati, G; Valayannopoulos, V; Mention, K; de Lonlay, P; Jouvet, P; Depondt, E; Assoun, M; Souberbielle, J C; Rabier, D; Ogier de Baulny, H; Saudubray, J-M.
Afiliación
  • Touati G; Centre de Référence des Maladies Héréditaires du Métabolisme, AP-HP Hôpital Necker Enfants-Malades, AP-HP, Université René Descartes, Paris, France. guy.touati@nck.aphp.fr
J Inherit Metab Dis ; 29(2-3): 288-98, 2006.
Article en En | MEDLINE | ID: mdl-16763890
In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment, 18% died later, and the remainder (68%) are still alive. All patients were treated with the same protocol of enteral feeds with a low-protein diet adjusted to individual tolerance, carnitine, antibiotics, and only occasional use of an amino acid (AA) mixture. There was intensive follow-up and monitoring using measurements of urinary urea. Thirty-nine patients with severe forms, followed for more than 3 years, are analysed in particular detail. Of the 17 PA patients, 6 had moderate disability (all neonatal-onset forms), whereas 11 were normal or slightly delayed in their mental development. Four presented with cardiomyopathy, of whom 2 died. Of the 22 MMA patients, 13 presented in the neonatal period, of whom 3 died later, 2 are in renal failure and only 5 are still alive and have a normal or slightly delayed mental development. In the 9 patients with late-onset forms, there were no deaths and all patients but one have normal mental development. Among the 39 patients, only 40% were given an AA supplement at 3 years, and 50% between 6 and 11 years. The actual intake of natural protein was 0.92, 0.78 and 0.77 g/kg per day at 3, 6 and 11 years, respectively, in patients without AA supplementation, whereas it was 0.75, 0.74 and 0.54 g/kg per day in the group who received small quantities of AA (0.4-0.6 g/kg per day). In both groups, feeding disorders were frequent: 55% at 3 years, 35% at 6 years and 12% at 11 years. Many patients were given a food supplement by tube overnight or were even exclusively tube fed: 60% at 3 years, 48% at 6 years and still 27% at 11 years. Growth velocity was near the normal values. Plasma valine and isoleucine were low to very low, as were leucine and phenylalanine but to a lesser extent. Albumin, vitamins, trace elements and markers of bone metabolism were within the normal values. IGF1, 24-hour urine calcium and body mass density were low. Body composition showed a normal to low lean mass and a normal to high fat mass.
Asunto(s)
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Propionatos / Nutrición Enteral / Dieta con Restricción de Proteínas / Suplementos Dietéticos / Errores Innatos del Metabolismo de los Aminoácidos / Aminoácidos / Ácido Metilmalónico Tipo de estudio: Guideline / Observational_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2006 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Buscar en Google
Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Propionatos / Nutrición Enteral / Dieta con Restricción de Proteínas / Suplementos Dietéticos / Errores Innatos del Metabolismo de los Aminoácidos / Aminoácidos / Ácido Metilmalónico Tipo de estudio: Guideline / Observational_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2006 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos