The variable clinical phenotype of liver glycogen synthase deficiency.
J Pediatr Endocrinol Metab
; 20(12): 1339-42, 2007 Dec.
Article
em En
| MEDLINE
| ID: mdl-18341095
ABSTRACT
We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSD0 is more common than previously assumed. Recognition of the variable phenotype spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio
/
Glicogênio Sintase
/
Fígado
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2007
Tipo de documento:
Article