Alpha-1 antitrypsin deficiency (AATD) is an inherited autosomal codominant condition that is passed down from both parents to their children. The disease was first observed as a connection between low plasma serum levels of the protein alpha-1 antitrypsin (AAT) and symptoms of pulmonary emphysema. The therapies of AATD include pulmonary rehabilitation therapy, supportive respiratory therapy,…
Long chain fatty acid oxidation disorders (LCFAOD) are a group of rare, genetic, metabolic disorders characterized by impaired fat metabolism resulting in acute crises of energy production and chronic energy deficiency. The clinical presentation of the diseases varies greatly from one patient to the next; comorbidities include hypoketotic hypoglycemia, hepatic dysfunction, cardiomyopathy, rhabdomyolysis, skeletal myopathy,…
A multidisciplinary team of Alagille syndrome (ALGS) specialists can help patients with the disease manage their condition and symptoms. These ALGS specialists include pediatricians, nutritionists, gastroenterologists, cardiologists, ophthalmologists, nephrologists, transplant hepatologists, and clinical geneticists. Learn about these specialists here: Specialists for Alagille Syndrome
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition characterized by liver and obstructive lung disease. This condition is caused by a disruption in the normal production of the protein alpha-1 antitrypsin. Learn about the genes, mutations, and types of AATD here: The etiology and different types of AATD
