What happens when gpihbp1 is deficient or mutated?
Deficiency or mutations in gpihbp1 can lead to severe metabolic disorders. The most notable condition associated with gpihbp1 deficiency is chylomicronemia, where there is an accumulation of chylomicrons in the blood due to the impaired hydrolysis of triglycerides. This results in a range of symptoms, including pancreatitis, eruptive xanthomas, and increased risk of cardiovascular diseases.
