FA oxidation Flashcards
ATGL is only found in adipose tissue
ya
what happens in ATGL KO mice?
build up of adipose tissue–decreased lipolysis; heart failure–>most KO mice died while most WT lived
Heart uses TAGs often for energy–> no TAG breakdown, not much energy for heart–>heart failure
ya
AGTL is the RATE LIMITING enzyme for initiation of TAG lipolysis
ya
what is Chanarin-Dorfman syndrome
lipid storage disease; very rare; fats abnormally stored in the body (eyes, ears, muscle, skin, liver, intestine); cannot breakdown TAGs but patients are not obese-
symptoms of CD syndrome?
scaly skin; weak heart (heart has preference for fat as fuel); fatty liver, mental retardation
what is CDS caused by?
mutation in CGI-58–> cannot activate ATGL
treatment for CDS?
no treatment yet; manage symptoms
what is MCAD deficiency
medium-chain acyl-CoA DH deficiency (first Ez–>introduces DB)–> one of the most common inherited lipid met disorders; a disease of FA oxidation
what happens with MCAD deficiency?
cannot generate ATP from FAs during fasting, which is a major fuel source for heart–>will appear when child is fasting
symptoms
seizures/death/coma; long term problems: delayed physical and mental development; weak heart; possible cause of SIDS?
since MCAD deficiency is so common newborns in USA are screened for it
ya
treatment for MCAD?
avoid periods of fasting; frequent, high-carb meals; IV glucose
what is carnitine deficiency?
Acyl-CoA cannot cross the membrane;
symptoms of carnitine deficiency
appear in newborn’s childhood–>muscle weakness, weak/enlarged heart, brain dysfunction–>heart failure if undiagnosed
