منابع مشابه
Glucose-6-phosphatase deficiency
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more f...
متن کاملThe glucose-6-phosphatase system.
Glucose-6-phosphatase (G6Pase), an enzyme found mainly in the liver and the kidneys, plays the important role of providing glucose during starvation. Unlike most phosphatases acting on water-soluble compounds, it is a membrane-bound enzyme, being associated with the endoplasmic reticulum. In 1975, W. Arion and co-workers proposed a model according to which G6Pase was thought to be a rather unsp...
متن کاملGlucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia
Background: Jaundice is affecting over 60-80 percent of neonates in the first week of life. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is an important cause of pathologic hyperbilirubinemia, can lead to hemolytic anemia, jaundice and kernicterus. The present study was performed to determine the prevalence of G6PD deficiency among icteric neonates in Shirvan, Iran. Methods: This...
متن کامل[glucose-6-phosphate Dehydrogenase Deficiency].
LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq28 localization gene, structural-functional anomalies G6PD (G6PD1) glucose-6-phosphate dehydrogenase, gene chr.Xq28 gene analysis-DNA analysis myelo-erythropoietic disorders glucose-6-phosphate dehydrogenase deficiency haemolytic anaemia isolated hematopo...
متن کاملGlucose-6-phosphate dehydrogenase deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficiency is prevalent throughout tropical and subtropical regions of the world because of the protection it affords during malaria infection. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute haemolytic...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2011
ISSN: 1750-1172
DOI: 10.1186/1750-1172-6-27