Danon disease is an X-linked dominant disorder due to mutations in the LAMP2 gene, presenting with hypertrophic cardiomyopathy, skeletal myopathy and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of 9 unrelated patients with hypertrophic card...

celiac disease has protean manifestations. in this report, a 24 year-old young female with celiac disease and acute lower extremity deep venous thrombosis (dvt) is presented. the patient was a 24 year-old female who presented with long standing diarrhea, 8 kg weight loss in the recent month, lower extremity edema, petechiae and purpura. laboratory exam demonstrated very high titers of iga antie...

Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...

In dietary potassium deficiency there is a decrease in the transport activity of the type IIa sodium/phosphate cotransporter protein (NaPi) despite an increase in its apical membrane abundance. This novel posttranslational regulation of NaPi activity is mediated by the increased glycosphingolipid content of the potassium-deficient apical membrane. However, the mechanisms by which these lipids m...

Quality Protein Maize (QPM) has about twice the amount of lysine and tryptophan of normal maize and hence represents an important tool of correcting its deficiency in protein quality. However, the effects of low nitrogen and drought on genetic parameters such as gene action and combining abilities of protein quantity and quality of QPM are not known. To study how these genetic parameters are af...

Peanut (Arachis hypogaea L.) is the fourth important oilseed in world. After oil extraction, defatted peanut a protein-rich by-product containing around 50% of protein that can enable production isolates (90% protein) and concentrates (70% protein). has an excellent amino acid profile, desirable volatile low level antinutritional factors steady supply. Despite these advantages, underutilised be...

BACKGROUND Protein S, which circulates in plasma in both free and bound forms, is an anticoagulant protein that stimulates activated protein C and tissue factor pathway inhibitor. Hereditary type I protein S deficiency (low total and low free protein S) is a well-established risk factor for venous thrombosis, whereas the thrombosis risk associated with type III deficiency (normal total and low ...

The availability of indispensable amino acids (IAA) modulates protein turnover. More particularly AAI deficiency reduces synthesis while the consequence on proteolysis remains unclear. present study aims to evaluate specific response both and a diet restricted one strictly IAA, either lysine or threonine Sixty-four growing rats were divided into 8 groups (n = 8/group). They fed for 3 weeks isoc...

introduction: α1-antitrypsin deficiency (α1-atd) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. the aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. case presentation: we describe a 13 year old boy because of exertional dysp...