RESUMO

In a series of 79 consecutive preterm infants who were ready for discharge, 14 (18%) infants were unable to maintain normal concentrations of blood glucose. This finding suggests that a significant number of preterm infants are at risk of hypoglycemia at home if a feed is omitted or delayed.

Assuntos

Glicemia/metabolismo , Glucose-6-Fosfatase/sangue , Hipoglicemia/etiologia , Recém-Nascido Prematuro/sangue , Peso ao Nascer , Glicemia/análise , Feminino , Privação de Alimentos/fisiologia , Idade Gestacional , Humanos , Hipoglicemia/classificação , Hipoglicemia/diagnóstico , Recém-Nascido , Lactatos/sangue , Masculino , Alta do Paciente , Fatores de Risco , Índice de Gravidade de Doença

RESUMO

Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucose-6-phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible for G6P transport, and its mapping to human chromosome 11q23.3. The gene is composed of nine exons spanning a genomic region of approximately 4 kb. Primers based on the genomic sequence were used in single strand conformation polymorphism (SSCP) analysis and mutations were found in six out of seven GSD 1b patients analysed.

Assuntos

Cromossomos Humanos Par 11 , Doença de Depósito de Glicogênio Tipo I/genética , Mutação , Fosfotransferases/genética , Antiporters , Austrália , Mapeamento Cromossômico , Códon de Terminação/genética , DNA/sangue , Primers do DNA , Éxons , Humanos , Íntrons , Itália , Proteínas de Transporte de Monossacarídeos , Peru , Mutação Puntual , Polimorfismo Conformacional de Fita Simples , Deleção de Sequência