Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
J Inherit Metab Dis
; 39(5): 597-610, 2016 09.
Article
em En
| MEDLINE
| ID: mdl-27106218
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Metabólicas
/
Erros Inatos do Metabolismo
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article