title: Prenatal diagnosis of glycogen storage disease type IV.
abstract: BACKGROUND
  Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the glycogen branching enzyme (GBE). Prenatal diagnosis has occasionally been performed by the measurement of the GBE activity in cultured chorionic villi (CV) cells.
  
  
  METHODS
  Two unrelated probands with severe hypotonia at birth and death during the neonatal period were diagnosed with GSD-IV on the basis of postmortem histological findings. DNA analysis revealed truncating GBE1 mutations in both families.
  
  
  RESULTS
  Prenatal diagnosis was performed in subsequent pregnancies by determination of branching enzyme activity and DNA analysis of CV or cultured amniocytes. Detailed autopsies of the affected fetuses at 14 and 24 weeks of gestation demonstrated intracellular inclusions of abnormal glycogen characteristic of GSD-IV.
  
  
  CONCLUSIONS
  Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
authors.forename: H Orhan
authors.initials: HO
authors.lastname: Akman
authors.forename: Charalampos
authors.initials: C
authors.lastname: Karadimas
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Gyftodimou
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Anastasia
authors.initials: A
authors.lastname: Konstantinidou
authors.forename: Hector
authors.initials: H
authors.lastname: Anninos
authors.forename: Efstratios
authors.initials: E
authors.lastname: Patsouris
authors.forename: Harshwardhan M
authors.initials: HM
authors.lastname: Thaker
authors.forename: Jeffrey B
authors.initials: JB
authors.lastname: Kaplan
authors.forename: Isaam
authors.initials: I
authors.lastname: Besharat
authors.forename: Konstantina
authors.initials: K
authors.lastname: Hatzikonstantinou
authors.forename: Spyridon
authors.initials: S
authors.lastname: Fotopoulos
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D000025:Abortion, Eugenic; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D015061:1,4-alpha-Glucan Branching Enzyme