Q LM-04: About a congenital disorder of lipid metabolism

Biochemistry Question LM-04





An adopted baby boy, (approximately 6-month-old), whose family history is unknown,  presents with dark greenish colored stools and excessive crying for four days. A physical examination of the child revealed a pallor skin with an enlarged liver and enlarged spleen.


Blood test reveals a lactescent  plasma and a lipid profile showed very high levels of triglycerides (2 500 mg/dL}. Lipoprotein electrophoresis demonstrated an abnormal extensive band of chylomicrons.  


Based in the information above, the most likely diagnosis for this patient is:


a)     Abetalipoproteinemia 


b)     Familial defective Apoprotein B


c)      Familial hypercholesterolemia


d)     Lipoprotein Lipase Deficiency


e)     Sphingolipidosis




2 thoughts on “Q LM-04: About a congenital disorder of lipid metabolism

  1. chylomicron is a type of lipoprotein which is having mostly triglycerides and a small % of other lipids. the chylomicrons are synthesized by small intestine and it is getting lipids from the food that is consumed.

    it is having apo B48 , apo C and apo A & E. it enters systemic circulation through lymph and metabolized by capillary Lipoprotein lipase into fatty acids and glycerol which are taken up by the tissue . chylomicron remnants are taken in by liver through the remnants receptor and apo E receptor.

    in Abetalipoproteinemia chylo, VLDL can’t be formed since the apo B is absent
    in familial hypercholesteremia LDL and cholestrol level will be high
    in familial defective apo protein B the removal of chyloremnants and LDL will suffer hence Cholesterol will be high
    spingolipidosis is a lysosomal disorder where the degradation of spingolipids is getting affected

    here the diagnosis is lipiprotein lipase deficiency which is essential for cleaving the chylo and VLDL
    hence the chylo stays back in blood and produces a band at chylo position. triglycerides level will go to higher planes . serum here will be milky white.

    it can be treated intelligently by proper selection of fats . if you ask them to take fat with medium or short chain fatty acids it will get absorbed through wall of stomach. you can avoid the formation of milky serum

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