title: A neonatal form of glycogen storage disease type IV.
abstract: We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.
authors.affiliation: Department of Pediatrics, Tenri Hospital, Nara, Japan. nambum@tenriyorozu-hp.or.jp
authors.forename: M
authors.initials: M
authors.lastname: Nambu
authors.forename: K
authors.initials: K
authors.lastname: Kawabe
authors.forename: T
authors.initials: T
authors.lastname: Fukuda
authors.forename: T B
authors.initials: TB
authors.lastname: Okuno
authors.forename: S
authors.initials: S
authors.lastname: Ohta
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: H
authors.initials: H
authors.lastname: Sugie
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000032:analysis / Q000172:deficiency / Q000235:genetics; D009202:Cardiomyopathies / Q000150:complications / Q000175:diagnosis; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005936:Glucans / Q000032:analysis; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007231:Infant, Newborn; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D006831:Polyhydramnios / Q000150:complications / Q000000981:diagnostic imaging; D011247:Pregnancy; D017384:Sequence Deletion; D014463:Ultrasonography
chemical_list: D005936:Glucans; C083094:polyglucosan; D015061:1,4-alpha-Glucan Branching Enzyme; D003402:Creatine Kinase