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01-09-2016 | SSIEM 2015

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder

Authors: Sophie Collardeau-Frachon, Marie-Pierre Cordier, Massimiliano Rossi, Laurent Guibaud, Christine Vianey-Saban

Published in: Journal of Inherited Metabolic Disease | Issue 5/2016

Abstract

This review highlights the importance of performing an autopsy when faced with fetal abortion or termination of pregnancy with suspicion of an inborn error of metabolism. Radiological, macroscopic and microscopic features found at autopsy as well as placental anomalies that can suggest such a diagnosis are detailed. The following metabolic disorders encountered in fetuses are discussed: lysosomal storage diseases, peroxisomal disorders, cholesterol synthesis disorders, congenital disorders of glycosylation, glycogenosis type IV, mitochondrial respiratory chain disorders, transaldolase deficiency, generalized arterial calcification of infancy, hypophosphatasia, arylsulfatase E deficiency, inborn errors of serine metabolism, asparagine synthetase deficiency, hyperphenylalaninemia, glutaric aciduria type I, non-ketotic hyperglycinemia, pyruvate dehydrogenase deficiency, pyruvate carboxylase deficiency, glutamine synthase deficiency, sulfite oxidase and molybdenum cofactor deficiency.

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Title: Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder
Authors: Sophie Collardeau-Frachon
Marie-Pierre Cordier
Massimiliano Rossi
Laurent Guibaud
Christine Vianey-Saban
Publication date: 01-09-2016
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2016
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-016-9937-x

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