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- Sep 8, 2015
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Hey guys could someone explain this to me?? Its a question from Kaplan qbank
Kid with hypoglycemia/hypoketonemia has cardiomegaly/muscle aches/etc and dies at 5year old . Labs at an exam showed elevated carnitine esters in serum AND muscle tissue
The answers were some glycogen storage and 1)Carnitine Uptake Deficiency
2) LCAD Deficiency and I chose Carnitine since if Cat-1 makes the carnitine esters and there is no uptake of them in the mitochondrion they should accumulate... But it was LCAD deficiency and in the explanation they say ''Since Carnitine-esters are accumulating in serum and in muscle tissue , a carnitine uptake deficiency is ruled out'' !! Why is that??And also , shouldnt LCAD deficiency cause accumulation of simple FA's (not ''carnitized'' )
In my mind FA oxidation should be like this FA in cytoplasm --> CAT-1 makes FA-CARN --> Uptake by carnitine transporter ( DEFECT SHOULD BE HERE IN CARNITINE UPTAKE deficiency , so FA-CARN accumulates..) --> FA-CARN in mitochondrion --> CAT-2 removes carnitine and makes FA ---> FA gets oxidized
I hope someone could clear this out for me coz its driving me nuts
Thanks a lot
Kid with hypoglycemia/hypoketonemia has cardiomegaly/muscle aches/etc and dies at 5year old . Labs at an exam showed elevated carnitine esters in serum AND muscle tissue
The answers were some glycogen storage and 1)Carnitine Uptake Deficiency
2) LCAD Deficiency and I chose Carnitine since if Cat-1 makes the carnitine esters and there is no uptake of them in the mitochondrion they should accumulate... But it was LCAD deficiency and in the explanation they say ''Since Carnitine-esters are accumulating in serum and in muscle tissue , a carnitine uptake deficiency is ruled out'' !! Why is that??And also , shouldnt LCAD deficiency cause accumulation of simple FA's (not ''carnitized'' )
In my mind FA oxidation should be like this FA in cytoplasm --> CAT-1 makes FA-CARN --> Uptake by carnitine transporter ( DEFECT SHOULD BE HERE IN CARNITINE UPTAKE deficiency , so FA-CARN accumulates..) --> FA-CARN in mitochondrion --> CAT-2 removes carnitine and makes FA ---> FA gets oxidized
I hope someone could clear this out for me coz its driving me nuts
Thanks a lot