What is Abetalipoproteinemia?

Abetalipoproteinemia, or Bassen-Kornzweig syndrome is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apo lipoproteins ,which are used in the synthesis and exportation of chylomicrons and VLDL.

Questions and answers on "Abetalipoproteinemia"

i am abaan. i m 22 year old prob. in kidneys right kidney, tiny echogenic shadow measuring 2.8mm is seen in middle calyx of right kidney...

doctor1 MD

Fatty liver (FL) is commonly associated with alcohol or metabolic syndrome (diabetes, hypertension, obesity and dyslipidemia), but can also be due...

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should I be worried if my daughter has acanthocytes in her blood

doctor1 MD

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Welcome to HCM

I completely understand your concerns. Acanthocytosis on blood smear examination is not a...

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My son has been diagnosed on the autism spectrum (high functioning) but his faecial matter lately has been very pale in colour, appears to float...

doctor1 MD

hi there

Your 6 year is suffering from autistic spectrum, I would have been comfortable with his severity if i would know his speech and eye contact...

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