Kanuma (sebelipase alfa)

Vitamin D Deficiency Symptoms and Treatment

Vitamin D deficiency has been linked with rickets, cancer, cardiovascular disease, severe asthma in children and cognitive impairment in older adults. Causes include not ingesting enough of the vitamin over time, having limited exposure to sunlight, having dark skin, and obesity. Symptoms include bone pain and muscle weakness. Treatment for vitamin D deficiency involves obtaining more vitamin D through supplements, diet, or exposure to sunlight.

Genetic Diseases (Disorder Definition, Types, and Examples)

The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).

What Are the 3 Stages of Iron Deficiency?

Iron is an important substance that our body needs in minute amounts. Daily ingestion of iron is needed for the health of red blood cells and muscle proteins, as well as the functioning of body cells. The normal body iron content in an adult is approximately 3-4 grams.

What Foods to Avoid If You Have G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) is a genetic (hereditary) disorder. Therefore, you cannot prevent it. However, you can prevent the more serious G6PDD symptoms by avoiding certain foods such as fava beans, aniline dyes and certain medications.

Iron Deficiency

Iron is a mineral our bodies need. Iron deficiency is a condition resulting from not enough iron in the body. It is the most common nutritional deficiency and the leading cause in the US. Iron deficiency is caused due to increased iron deficiency from diseases, nutritional deficiency, or blood loss and the body's inability to intake or absorb iron. Children, teen girls, pregnant women, and babies are at most risk for developing iron deficiency. Symptoms of iron deficiency include feeling weak and tired, decreased work or school performance, slow social development, difficulty maintaining body temperature, decreased immune function, and an inflamed tongue. Blood tests can confirm an iron deficiency in an individual. Treatment depends on the cause of the deficiency. Proper diet that includes recommended daily allowances of iron may prevent some cases of iron deficiency.

Vitamin D Deficiency

Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease.

How Do I Know If I Have Telogen Effluvium or Androgenetic Alopecia?

What is the difference between telogen effluvium and androgenetic alopecia? Learn about these hair loss conditions and how to treat them.

G6PD Deficiency

G6PD deficiency (Glucose 6-phosphate dehydrogenase) leads to a condition called hemolytic anemia. Causes of G6PD deficiency is an abnormal gene located in the X-chromosome, therefore, it is more common in males. Hemolytic anemia caused by G6PD deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Pneumonia and other infections can also precipitate hemolytic anemia in individuals with G6PD deficiency. Treatment is generally discontinuing the drug or compound treating infection. Blood transfusions are necessary in some individuals.

What Triggers G6PD Deficiency?

G6PD deficiency is a genetic disorder that results in an inadequate amount of a very important enzyme (protein) called glucose-6-phosphate dehydrogenase (G6PD) in the blood. The enzyme is required for the protection of the red blood cells and the regulation of various biochemical reactions in the body. When G6PD is deficient, red blood cells break down prematurely; this process is called hemolysis.

Genetic Counseling

Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.

Tetrahydrobiopterin Deficiency

Tetrahydrobiopterin deficiency is a rare genetic disorder that increases the levels of phenylalanine and several other substances in the blood, at birth. Symptoms of Tetrahydrobiopterin deficiency include movement disorders, difficulty swallowing, seizures, and more. Causes of tetrahydrobiopterin deficiency can be from mutations of several genes including GCH1, PCBD1, PTS, and QDPR. Tetrahydrobiopterin deficiency is an inherited condition in an autosomal resessive pattern.

What Are the Symptoms and Causes of Vitamin D Deficiency?

What is vitamin D deficiency? Learn the signs of vitamin D deficiency and what foods you can eat to help prevent vitamin D deficiency.

Genetic Testing: Families With Breast Cancer

Breast cancer can be a killer and the decision to get tested to see if a patient is prone to the disease should be discussed with a doctor -- particularly if the woman has a history of breast cancer in her family. Genetic testing can only tell so much about breast cancer risk, however.

Who Should Get Genetic Counselling?

Genetic counseling is the process that helps you in determining hereditary or genetic (running in your family) problems that might affect you or your family. It is done by a trained professional.