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Orphan Europe, part of the Recordati group, announces that the U.S. Food and Drug Administration (FDA) approved Carbaglu® (carglumic acid) for use in paediatric and adult patients for the treatment of acute hyperammonaemia due to the deficiency of the hepatic enzyme N-acetylgutamate synthase (NAGS deficiency) and as maintenance therapy for chronic hyperammonaemia due to NAGS deficiency.

NAGS deficiency is an extremely rare genetic disorder that can present in babies soon after birth. NAGS deficiency and the resulting elevated levels of ammonia (hyperammonemia) are severely debilitating and fatal if not detected and treated rapidly. Carbaglu is the specific treatment for NAGS deficiency, normalizing the blood ammonia concentration (Tuchman, 2008)

 “We are very pleased with the FDA’s timely decision to approve Carbaglu and thus make this drug available for patients in the US suffering from such a serious condition” said Giovanni Recordati, Recordati’s Chairman and CEO. “This represents a significant step in the development of our business dedicated to the treatment of rare and orphan diseases.”

Carbaglu has marketing authorisation in Europe since 2003.

M. Tuchman, L. Caldovic, Y. Daikhin, O. Horyn, I. Nissim, I. Nissim, M. Korson, B. Burton, M. Yudkoff. “N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic academia as measured by isotopic incorporation and blood iomarkers”. Pediatric research, Vol. 64, No. 2, 2008