The Abetalipoproteinemia and Related Disorders Foundation (ABLRDF) is a nonprofit organization founded in 2019 that comprised of patients with abetalipoproteinemia (ABL), familial hypobetalipoproteinemia (FHBL) related disorders as well their caregivers, researchers, medical professionals. real-world experience individuals within the ABLRDF provides closer examination unique struggles managing ...

We report the autopsy of a 79-year-old Japanese woman with Dubin-Johnson syndrome accompanied by pneumonia, an abetalipoproteinemia-like lipid profile and acanthocytosis. On admission, physical examination of the patient revealed malnutrition. Blood tests revealed marked inflammatory changes and mild liver dysfunction. Chest X-ray indicated bilateral pneumonia. Total cholesterol, low-density li...

abetalipoproteinemia (abl) is a very rare autosomal recessive disorder caused by mutations in the microsomal triglyceride transfer protein gene (mttp). abl is characterized by lack of lipids and apolipoprotein b (apob) in plasma, fat malabsorption and various clinical manifestations. we describe a 12-month-old infant boy, born from consanguineous parents and presented with diarrhea, steatorrhea...

Platelets were obtained from patients with various hyperlipidemias [type II, type V, lecithin-cholesterol acyltransferase (LCAT) deficiency] and hypolipidemias (abetalipoproteinemia, Tangier disease) to ascertain relationships among plasma lipids, platelet lipids, thrombin binding and thrombin-induced platelet aggregation, and to compare these data with those previously obtained on stimulus-res...

Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autoso...

Received for publication 16 November 1981 and in revised form 18 August 1982. human fibroblasts. The binding activity of plasma from patients (per milligram of protein) was about half that of plasma from normal volunteers. All binding activity in the patients' plasma was found to reside in the HDL fraction. The binding activity of the patients' HDL (on a total protein basis) was intermediate be...