Prenatal diagnosis of glycogen storage disease type IV.
Prenat Diagn
; 26(10): 951-5, 2006 Oct.
Article
em En
| MEDLINE
| ID: mdl-16874838
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.CONCLUSION:
Prenatal diagnosis of GSD-IV by DNA analysis is highly accurate in genetically confirmed cases.
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Bases de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Doença de Depósito de Glicogênio Tipo IV
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Enzima Ramificadora de 1,4-alfa-Glucana
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
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Male
/
Newborn
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Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos