Increasing Public Awareness of Bile Acid Deficiency Diseases
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Rockville, Maryland 20852-4455
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Bile Acid Synthesis Deficiency Disease Resources
Learn about a serious health condition when you contact the Council for Bile Acid Deficiency Diseases. Based in Rockville, Maryland, USA, our organization offers information on bile acid deficiency diseases.
Increasing Public Awareness of Medical Conditions The Council for Bile Acid Deficiency Diseases is an organization that promotes a public understanding of various bile acid deficiency diseases focusing on the need for new diagnostic methods and treatments.
In particular, we strive to increase public awareness of Bile Acid Deficiency Diseases, a group of disorders that have been known to cause poor absorption of nutrients, poor growth and progressive liver failure in afflicted patients. Early diagnosis of patients provides opportunities to treat these patients with research drugs, which may allow them to live more normal lives.
Help Us Raise Awareness You can do your part to prevent these debilitating diseases from affecting those around you by taking an active role in educating the community. Our organization is committed to raising awareness for Bile Acid Deficiency Diseases, and we are always happy to accept your membership and support from those who are interested in helping.
Everything You Need to Know about Bile Acid Synthesis Deficiency Diseases We offer information on how these diseases occur, what type of treatments are now being investigated, early diagnostic options, and programs about which you can seek more information. We also provide information to health care professionals active in the disease area, and welcome all medical health care professionals to join the Council. We encourage medical professionals actively treating bile acid deficiency diseases to participate and share their expertise.
What Are Bile Acid Synthesis Deficiency Diseases Inborn genetic errors in the enzymes involved in bile acid synthesis and metabolism are broadly classified as either primary or secondary. Primary enzyme defects involve congenital deficiencies caused by DNA mutations in enzymes responsible for catalyzing key reactions in the synthesis of cholic and chenodeoxycholic acids. The primary enzyme defects include:
• Cholesterol 7 α-hydroxylase (CYP7A1) deficiency • Oxysterol 7 α-hydroxylase (CYP7B1) deficiency • Sterol 27-hydroxylase (CYP27A1) deficiency (presenting as cerebrotendinous xanthomatosis, CTX) • 3β-hydroxy- Δ5-C27-steroid oxidoreductase (also known as 3β-hydroxy Δ5-C27-steroid dehydrogenase/isomerase or 3β-HSD or HSD3β7) deficiency • Δ4-3-oxosteroid 5β-reductase (AKR1D1) deficiency • α-methylacyl-CoA racemase (2-methylacyl-CoA racemase or AMACR) deficiency • Trihydroxycholestanoic acid (THCA) CoA oxidase deficiency • Side-chain oxidation defect in the sterol 25-hydroxylation pathway • Defective bile acid amidation due to failure to conjugate with glycine and/or taurine