Alpha-1 antitrypsin (AAT) deficiency is an inherited genetic disorder currently diagnosed in approximately 5,000 people in the United States. Although some individuals with AAT deficiency are asymptomatic, the condition often leads to deterioration of lung function in adults and is associated with emphysema, asthma, chronic obstructive pulmonary disease, and other respiratory diseases. In child...

Nutrient intake recommendations and national nutritional policies have focused primarily on prevention of short-latency deficiency diseases. Most nutrient intake recommendations today are based on prevention of the index disease only. However, inadequate intakes of many nutrients are now recognized as contributing to several of the major chronic diseases that affect the populations of the indus...

This is a review article regarding the new types of Mucopolysacharidose disease and re­lated diagnostic tests. Recently has been found that Hurler's and Scheie's diseases are due to the deficiency of Alpha-Iduronidase and San­filippo's disease is due to Heparan-N-Sulphatase and N-Acetyl-Alpha-D-Glucosaminidase defici­ency. 

Metachromatic leukodystrophy and multiple sulfatase deficiency disorder are severe neurodegenerative diseases inherited as separate autosomal recessive traits. Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. So...

Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical d...

Purpose It is known that vitamin D deficiency has a role in the formation of autoimmune diseases, inflammatory bowel disease, rheumatoid arthritis, multiple sclerosis, diabetes, many types cancer and heart diseases. This study was conducted to demonstrate Hashimoto's thyroiditis. Methods In this cross-sectional study, patients who applied Izmir Bozyaka Training Research Hospital endocrinology o...

Stomach Helicobacter pylori infection is one of the common gastric diseases. infectious gastritis spleen deficiency and dampness stagnation a relatively intractable chronic disease. In recent years, traditional Chinese medicine methods have emerged after another in treatment infection. By collecting references, author reviewed clinical characteristics new progress treatment.

Commoncauses of magnesium (Mg) deficiency are small bowel diseases, such as chronic bowel disease, or resection of the small bowel. Chronic alcoholism is also an important cause of Mg deficiency. Clinical features and the degree of Mg deficiency appear to vary depending upon the underlying disorder as well as the portion and extensiveness of the small bowel disease. One of the most prominent ma...