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Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP

18 Sept 2012

Abstract excerpt

Molybdenum cofactor deficiency (MoCD) is a lethal autosomal recessive inborn error of metabolism with devastating neurologic manifestations. Currently, experimental treatment with cyclic pyranopterin monophosphate (cPMP) is available for patients with MoCD type A caused by a mutation in the MOCS-1 gene. Here we report the first case of an infant, prenatally diagnosed with MoCD type A, whom we started on treatment...

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Identifiers

PMID: 22987873
DOI: 10.1542/peds.2011-3330

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