{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:30:29Z","timestamp":1791891029162,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2006,2,17]],"date-time":"2006-02-17T00:00:00Z","timestamp":1140134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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\u2010protein diet adjusted to individual tolerance, carnitine, antibiotics, and only occasional use of an amino acid (AA) mixture. There was intensive follow\u2010up and monitoring using measurements of urinary urea. Thirty\u2010nine 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\u2010onset 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\u2010onset 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\u20130.6 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\u2010hour urine calcium and body mass density were low. Body composition showed a normal to low lean mass and a normal to high fat mass.<\/jats:p>","DOI":"10.1007\/s10545-006-0351-7","type":"journal-article","created":{"date-parts":[[2006,6,9]],"date-time":"2006-06-09T03:09:10Z","timestamp":1149822550000},"page":"288-298","source":"Crossref","is-referenced-by-count":105,"title":["Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture"],"prefix":"10.1002","volume":"29","author":[{"given":"G.","family":"Touati","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, F\u00e9d\u00e9ration de P\u00e9diatrie H\u00f4pital Necker Enfants\u2010Malades  149 rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Valayannopoulos","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Mention","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Jouvet","sequence":"additional","affiliation":[{"name":"Intensive Care Unit, Department of Pediatrics AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Depondt","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Assoun","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. C.","family":"Souberbielle","sequence":"additional","affiliation":[{"name":"Functional Investigation AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Department of Biochemistry AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ogier de Baulny","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme AP\u2010HP H\u00f4pital Necker Enfants\u2010Malades, AP\u2010HP, Universit\u00e9 Ren\u00e9 Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959796"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711749"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02309853"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0245-8"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0278-z"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198501000-00023"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047367"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1994.1047"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198304143081501"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01819298"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-7056-1"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.11.916"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/59.6.1332"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710056"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0288-x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957284"},{"key":"e_1_2_1_18_1","first-page":"40","article-title":"Beneficial effects of growth hormone treatment in children with methylmalonic and propionic acidurias","volume":"26","author":"Touati G","year":"2003","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82005-0"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01953939"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)92689-5"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0267-2"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.08.012"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0351-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0351-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T09:08:26Z","timestamp":1694768906000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0351-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,17]]},"references-count":22,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1007\/s10545-006-0351-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0351-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,17]]}}}