{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:15:21Z","timestamp":1766870121299},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4477,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>MethylmalonylCoA mutase (MCM) is a mito\u2010chondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into <jats:italic>mut\u00b0<\/jats:italic> and <jats:italic>mut\u2212<\/jats:italic> classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency. All 11 <jats:italic>mut\u00b0<\/jats:italic> patients had an early neonatal presentation; 6 of these patients died in infancy and 3 of 5 survivors had a poor neurological outcome as evidenced by severe delay or spastic quadriparesis with dystonia. The 2 other survivors include a 27\u2010month\u2010old child with a mild delay in verbal and fine motor skills and an adolescent with low normal intelligence. Of the 9 <jats:italic>mut\u2212<\/jats:italic> patients, 7 became symptomatic in late infancy or childhood and 2 were picked up on screening. Two of the 9 patients have never had an episode of metabolic decompensation yet both are neurologically compromised; one severely retarded and autistic, the other mildly delayed. Four <jats:italic>mut\u2212<\/jats:italic> patients have had episodic acidosis and are neurologically moderately affected, while 3 have had episodic acidosis and are neurologically intact. These results confirm phenotypic pleomorphism without a consistent pattern of neurological injury and suggest some broad correlation between mutase class and phenotype. Survival with good outcome is possible among <jats:italic>mut\u00b0<\/jats:italic> patients as is significant morbidity among <jats:italic>mut\u2212<\/jats:italic> patients. Acidosis and metabolic imbalance are not necessary preconditions for significant morbidity. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450521","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:48:59Z","timestamp":1118508539000},"page":"619-624","source":"Crossref","is-referenced-by-count":47,"title":["Varying neurological phenotypes among <i>mut\u00b0<\/i> and <i>mut\u2212<\/i> patients with methylmalonylCoA mutase deficiency"],"prefix":"10.1002","volume":"45","author":[{"given":"Michael I.","family":"Shevell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora","family":"Matiaszuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred D.","family":"Ledley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David 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