1.1 bile synthesis disorders

bile acid synthesis disorder

a group of rare disorders characterised by defects in the creation/ synthesis of bile acid

when bile acid is not formed properly the abnormal intermediate compounds in bile build up in the production pathway due to a blockage

causing liver ijury → liver failure

because of abnormal bile produced

theres a decrease in the bodily uptake of fat soluble vitamins/foods → growth failure

signs/symptoms of BASD (bile acid synthesis disorder) are

commonly caught in infancy or early childhood, but in some cases not caught till adolescence or adulthood

symptoms

jaundice

failure to thrive

throwth deficienty

enlarged liver/spleen

diarrhoea/ pale dookie

vitamin deficienty

vitamin deficieny of fat soluble vitamins can cause

vision problems, Lack of A

rickets lack of D

clotting problems, lack of K

lack of E/ build of cholesterol can cause neurological diseases that can progress

without treatment BASD can cause life threatening conditions

cirrhosis

hight blood pressure

abdominal swelling

liver failure

BASD caused by genetic nutation which cause the liver to produce

the wrong protein

a non functional protein

cease protein production

the decrease in an essential protein for bile production causes the accumulation of intermediates in the synthesis pathway,

these are toxic to the liver/ maybe brain

several BASD disorders

characterised to the specific protein/ enzyme affected

BASD autosomal recessive inheritance

child must inherit mutated gene from BOTH parents to be affected with a 25% change the child gets it

disgnosis of BASD

• medical history

  • failure to thrive in a young

• clinical examination

  • look for jaundice

• specialised diagnostic test

  • to rule of common causes of liver disease

• liver biopsy

  • body fluid analysis

    • bile/blood/urine

• molecular genetic testing

  • for conformation of gene mutation

treatment varies on symptoms and may require a specialist

most cases can be treated with bile acid replacement therapy,

a person swallows a capsule containing 1 of 2 main bile acids

cholic acid/chenodeoxycholic acid

the 2 main types of bile acid

vitimin suplemenation

supportive + based on treatment

liver transplant reccomended to patients who

dont respond well to pharmacological treatment options

genetic counselling reccomended

for patients with a family history of BASD