نتایج جستجو برای: enzyme deficiency

تعداد نتایج: 368842  

Introduction: Glucose-6-phosphate dehydrogenase deficiency (G6PD) or fauvism is the most common enzyme deficiency in human, so that 400 million people are living with this disease worldwide. This study aimed to investigate the role of some neonatal factors among newborns suffering from G6PD deficiency and neonatal outcomes associated with this disease. Materials and methods: In this study, two...

Ahmad Saedisomeolia Alireza Sarkaki, Mahshid Naghashpour, Reza Amani, Sima Jafarirad

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis. Here, we systematically reviewed the literature concerning the health benefits of riboflavin on MS. The literature recorded within four main databases, including rel...

Journal: :Journal of Clinical Medicine 2023

Histamine intolerance occurs when there is an imbalance between histamine production and the capacity for degradation. Diamine oxidase (DAO) main enzyme catabolism of ingested degradation in gastrointestinal tract its deficiency has been linked to allergy-like symptoms. Psychostimulant drugs are commonly used treat Attention Deficit Hyperactivity Disorder (ADHD), but their interaction with DAO ...

Journal: :Research, Society and Development 2022

Historically, G6PD deficiency was reported for the first time in individuals who received doses of primaquine, primary drug to be addressed study, treat malaria, and triggered a symptomatic response with jaundice hematological field erythroenzymopathies. In this sense, through an integrative review, present research aimed discuss importance pharmaceutical care its relationship treatment patient...

عمادی, عاطفه , فکری, کیاوش , نوربخش, محمد کاظم , نکویی, افسانه , هاشمی دهکردی, الهام ,

Gangliosidosis GM1, is a lipid storage disorder due to deficiency of the lysosomal enzyme &beta-galactosidase. This deficiency leads to lysosomal accumulation of gangliosidosis GM1 to be, which contributes to swelling, cell damage and dysfunction of the organs. Gangliosidosis GM1a rare neurodegenerative disorder. Mongolian spots are significant clinical sign in some of the metabolic diseases, s...

Journal: :Human molecular genetics 2015
Lindsay C Burrage Qin Sun Sarah H Elsea Ming-Ming Jiang Sandesh C S Nagamani Arthur E Frankel Everett Stone Susan E Alters Dale E Johnson Scott W Rowlinson George Georgiou Brendan H Lee

Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine. Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, intellectual disability, seizures and growth deficiency. Unlike other urea cycle disorders, recurrent hyperammonemia is typically less severe in this disorder. Normalization ...

Journal: : 2023

Glucose-6-phosphate dehydrogenase (G6PD) is the key enzyme that initiates pentose phosphate cycle in glucose metabolism. Physiologically, this pathway main source of nicotinamide adenine dinucleotide (NADPH) for red blood cells. This study aims to identify glucose-6-phosphate mutations Nung ethnic patients with G6PD deficiency. 18 pediatric group were diagnosed deficiency at Vietnam National Ch...

باقری, فاطمه , بسکابادی, حسن , بسکابادی, عباس , ذاکری حمیدی, مریم ,

Background: Jaundice is the most common cause of neonatal admission within the first month after birth. Therefore, by identifying the causes of jaundice based on the infant’s age at disease onset and age at hospital admission and providing the required training, jaundice can be managed and its associated complications can be prevented. This study was performed to evaluate the causes of neonatal...

2013
Catharina ML Touw G Peter A Smit Klary E Niezen-Koning Conny Bosgraaf-de Boer Albert Gerding Dirk-Jan Reijngoud Terry GJ Derks

BACKGROUND Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with variant ACADM genotypes that had never been identified before in clinically ascertained patients....

Journal: :iranian journal of medical sciences 0
esmaeel sadeghi department of pediatrics, namazee hospital, shiraz, iran. perikala vijayananda kumar mansour haghshenas hamed jalaeian

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most common enzyme disorder in human. the aim of this study was to determine the prevalence of g6pd deficiency among children and evaluate its association with abo/rh blood groups.   method: blood samples of 3401 asymptomatic children were analyzed and compared with 317 children who were admitted to hospital because of hemol...

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