نتایج جستجو برای: کمبود آنزیم g6pd

تعداد نتایج: 25849  

Journal: :Blood 1989
E Beutler W Kuhl J L Vives-Corrons J T Prchal

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is probably the most common disease-producing genetic polymorphism of humans. Virtually all G6PD-deficient Africans show the G6PD A- phenotype, an electrophoretically rapid, deficient enzyme. The recently acquired ability to identify the point mutations producing the different variants has given us new insights into the population genetics of ...

Journal: :Pediatrics 2014
Bolaji O Badejoko Joshua A Owa Saheed B A Oseni Olusegun Badejoko Adesegun O Fatusi Ebunoluwa A Adejuyigbe

OBJECTIVE To document the patterns of bilirubin and hematocrit values among glucose-6-phosphate dehydrogenase (G6PD)-deficient and G6PD-normal Nigerian neonates in the first week of life, in the absence of exposure to known icterogenic agents. METHODS The G6PD status of consecutive term and near-term neonates was determined, and their bilirubin levels and hematocrits were monitored during the...

2017
Jaewoong Lee Joonhong Park Hayoung Choi Jiyeon Kim Ahlm Kwon Woori Jang Hyojin Chae Myungshin Kim Yonggoo Kim Jae Wook Lee Nack-Gyun Chung Bin Cho

BACKGROUND We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis. METHODS In parallel with a genetic analysis, the pathogenicity of G6PD mutations detected in Korean patients was predicted in silico. The simulated effects of G6P...

2010
Nasir Al-Allawi Adil A Eissa Jaladet MS Jubrael Shakir AR Jamal Hanan Hamamy

BACKGROUND Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is t...

2011
Seyed Reza Kazemi Nezhad Fatemeh Fahmi Saeid Reza Khatami Mohsen Musaviun

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of . Therefore in the present stu...

2017
Usa Boonyuen Kamonwan Chamchoy Thitiluck Swangsri Thanyaphorn Junkree Nicholas P.J. Day Nicholas J. White Mallika Imwong

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. It is responsible for various clinical manifestations, including favism, hemolytic anemia, chronic non-spherocytic hemolytic anemia, spontaneous abortion, and neonatal hyperbilirubinemia. Understanding the molecular mechanisms under...

Journal: :Indian journal of biochemistry & biophysics 2011
Hui-Ru Lu Qiong-Ling Tang Xin Wang Hong-Jun Li Dan-Yi Li Yin-Feng Yang Shu-Fen Tong Chun-Hua Zhang Yue-Chun Zhu

G6PD(Mahidol) enzyme is the most common variant in the Achang Chinese ethnic group and clinically manifests as class II. In this study, G6PD(Mahidol) enzyme was characterized by molecular modeling to understand its kinetics. G6PD(Mahidol), G6PD(G487A) and G6PD(WT) proteins were heterologously expressed in the G6PD-deficient DF213 E. coli strain, purified and their steady-state kinetic parameter...

Journal: :PLoS ONE 2007
Farooq Kiani Sonja Schwarzl Stefan Fischer Thomas Efferth

BACKGROUND Loss of function of dimeric glucose-6-phosphate dehydrogenase (G6PD) represents the most common inborn error of metabolism throughout the world affecting an estimated 400 million people. In Germany, this enzymopathy is very rare. METHODOLOGY/PRINCIPAL FINDINGS On the basis of G6PD crystal structures, we have analyzed six G6PD variants of German ancestry by three-dimensional modelin...

Journal: :Circulation 2005
Reiko Matsui Shanqin Xu Karlene A Maitland Antoinette Hayes Jane A Leopold Diane E Handy Joseph Loscalzo Richard A Cohen

BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) regulates production of the reduced form of NADPH through the pentose phosphate pathway. G6PD may therefore affect superoxide anion production via vascular NADPH oxidase, which is key in mediating the vascular response to angiotensin II (Ang II). We determined the hypertensive and vascular hypertrophic response to Ang II in G6PD-deficient mice...

Journal: :The Southeast Asian journal of tropical medicine and public health 2014
Pimlak Charoenkwan Watcharee Tantiprabha Supatra Sirichotiyakul Arunee Phusua Torpong Sanguansermsri

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common inherited enzymopathies in endemic areas of malaria including Southeast Asia. The molecular features of G6PD deficiency are similar among Southeast Asian population, with differences in the type of the prominent variants in each region. This study determined the prevalence and molecular characteristics of G6PD deficie...

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