Nelson Textbook of Pediatrics 22nd Ed — Section 105.6. Primary: 3-methylglutaconyl-CoA hydratase deficiency (AUH). Secondary: Barth syndrome (TAZ), Costeff syndrome (OPA3), MEGDEL (SERAC1), TMEM70, DCMA (DNAJC19). Elevated urinary 3-methylglutaconic acid, cardiomyopathy, neurologic involvement.
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