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

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• 作者：Sophie Collardeau-Frachon ; Marie-Pierre Cordier…
• 刊名：Journal of Inherited Metabolic Disease
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：39
• 期：5
• 页码：597-610
• 全文大小：2,294 KB
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Internal Medicine
  Metabolic Diseases
  Human Genetics
  Biochemistry
  Pediatrics
  
• 出版者：Springer Netherlands
• ISSN：1573-2665
• 卷排序：39

文摘

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.AbbreviationsABCC6ATP-binding cassette, subfamily C, member 6AGPSAlkylglycerone phosphate synthaseALGAsparagine-linked glycosylationCDGCongenital disorders of glycosylationCDPX2X-linked dominant chondrodysplasia punctata-2CHARGEColoboma, heart defects, choanal atresia, retardation, genital and ear anomaliesCHILDCongenital hemidysplasia ichtyosis limb defectCOG7Component of oligomeric Golgi complex 7CPT IICarnitine palmitoyl transferase 2 deficiencyDGUOKDeoxyguanosine kinaseENPP1Ectonucleotide pyrophosphatase/phosphodiesterase 1GACIGeneralized arterial calcification of infancyGNPATGlyceronephosphate acyltransferaseGRACILEGrowth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early deathGSDIIGlycogen storage disorder type IIGSDIVGlycogen storage disease type IVHESHematoxylin eosin saffronIEMInborn error of metabolismIUGRIntra uterine growth restrictionLSDLysosomal storage disordersMADDMultiple acyl-CoA dehydrogenase deficiencyMPSMucopolysaccharidosisPASPeriodic acid-SchiffPMM2Phosphomannomutase 2PORCytochrome P450 oxidoreductaseRCDPRhizomelic chondrodysplasia punctataSLC39A8Solute carrier family 39 (zinc transporter), member 8SLOSmith-Lemli-Optiz syndromeSSIEMSociety for the study of inborn errors of metabolismTAZTafazzinTOPTermination of pregnancyVACTERLVertebral, anal, cardiac, tracheoesophageal renal and limb anomaliesWGWeeks of gestation