Article
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
Prenatal diagnosis - 1 Dec 2005
Malvagia Sabrina, Morrone Amelia, Pasquini Elisabetta, Funghini Silvia, la Marca Giancarlo, Zammarchi Enrico, Donati Maria Alice
Abstract excerpt
OBJECTIVES: We report on the first prenatal molecular diagnosis of holocarboxylase synthetase (HLCS) deficiency in the fourth pregnancy of an at-risk family. This disorder is a rare autosomal recessive inborn error of metabolism, leading to a multiple carboxylase defect (MCD). HLCSD diagnosis was performed postmortem in the proband on DNA from autoptic biological material. Molecular analysis of the proband's...
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