DISEASE

Deficiency in Bile Acid Synthesis

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What is it?

Deficit in the synthesis of bile acids refers to a condition where there is a lack or impairment in the production of bile acids in the body. Bile acids play a crucial role in the digestion and absorption of dietary fats. When their synthesis is disrupted, it can lead to various complications and affect the normal functioning of the digestive system. This deficit can be caused by enzymatic deficiencies and is often associated with rare genetic disorders known as inborn errors of bile acid synthesis.

What are its symptoms?

Deficit in the synthesis of bile acids refers to a condition where there is a lack or impairment in the production of bile acids in the body. Bile acids play a crucial role in the digestion and absorption of dietary fats. When their synthesis is disrupted, it can lead to various complications and affect the normal functioning of the digestive system. This deficit can be caused by enzymatic deficiencies and is often associated with rare genetic disorders known as inborn errors of bile acid synthesis.

What do I need to consider?

Deficit in the synthesis of bile acids refers to a condition where there is a lack or impairment in the production of bile acids in the body. Bile acids play a crucial role in the digestion and absorption of dietary fats. When their synthesis is disrupted, it can lead to various complications and affect the normal functioning of the digestive system. This deficit can be caused by enzymatic deficiencies and is often associated with rare genetic disorders known as inborn errors of bile acid synthesis.

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References

  1. Setchell KD, Heubi JE, Balistreri WF. Defects in bile acid biosynthesis–diagnosis and treatment. J Pediatr Gastroenterol Nutr. 2000;30(3):236-250. doi:10.1097/00005176-200003000-00006
  2. Russell DW. The enzymes, regulation, and genetics of bile acid synthesis. Annu Rev Biochem. 2003;72:137-174. doi:10.1146/annurev.biochem.72.121801.161712
  3. Clayton PT. Inborn errors of bile acid synthesis. J Inherit Metab Dis. 2011;34(3):593-604. doi:10.1007/s10545-010-9307-2