Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
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.
Department of Pathology, Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France. sophie.collardeau-frachon@chu-lyon.fr.|Université Claude Bernard Lyon I, CHU de Lyon, France. sophie.collardeau-frachon@chu-lyon.fr.|SOFFOET, Société Française de Fœtopathologie, Lyon, France. sophie.collardeau-frachon@chu-lyon.fr.
Sophie
S
Collardeau-Frachon
Department of Genetics, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.
Marie-Pierre
MP
Cordier
Department of Genetics, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.
Massimiliano
M
Rossi
Université Claude Bernard Lyon I, CHU de Lyon, France.|Department of Fetal and Pediatric Imaging, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.
Laurent
L
Guibaud
Department of Department of Biochemistry, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.
Christine
C
Vianey-Saban
D001344:Autopsy / Q000379:methods; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics; D053858:Metabolic Networks and Pathways / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics