Prenatal diagnosis of glycogen storage disease type IV.
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.
Akman
H Orhan
HO
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Karadimas
Charalampos
C
Gyftodimou
Yolanda
Y
Grigoriadou
Maria
M
Kokotas
Haris
H
Konstantinidou
Anastasia
A
Anninos
Hector
H
Patsouris
Efstratios
E
Thaker
Harshwardhan M
HM
Kaplan
Jeffrey B
JB
Besharat
Isaam
I
Hatzikonstantinou
Konstantina
K
Fotopoulos
Spyridon
S
Dimauro
Salvatore
S
Petersen
Michael B
MB
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
D004247:DNA; D015061:1,4-alpha-Glucan Branching Enzyme