bassen-kornzweig syndrome…

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abetalipoproteinemia, acanthocytosis, apolipoprotein b deficiency, bassen-kornzweig syndrome, rare, inherited disease characterized by the inability to fully absorb dietary fats, the gut, results in fatty stools, diarrhea, failure to thrive in infancy, nerves, bassen-kornzweig syndrome, autosomal recessive inherited disorder, sexes, predominantly males, 70%, due to mutations in one of two genes, apolipoprotein b, apob, microsomal triglyceride transfer protein, mtp, syndrome causes, body not to make lipoproteins, molecules of fat combined, protein, low-density lipoproteins, ldl, very-low-density lipoproteins, vldl, chylomicrons, small molecules of fat, in the blood, unable to properly digest fat, have underdeveloped nerves, neuropathy, poor muscle coordination, ataxia, nerve disorders, failure to thrive, grow, in infancy, fatty stools that appear pale in color, frothy stools, abnormally foul-smelling stools, protruding abdomen, developmental delay, poor muscle coordination that, develops after age 10, muscle weakness, slurred speech, curvature of spine, progressive decreased vision, balance, coordination difficulties, cbc, complete blood count, abnormally shaped red blood cells, thorny appearance, cholesterol studies, total cholesterol that shows low levels of vldl, ldl, stool collection that shows elevated fat levels, low levels of fat-soluble vitamins vitamins a, d, e, k, ophthalmology exam showing retinal degeneration, absent, low apolipoprotein b levels in blood, genetic testing available, mutations, in the apob, mtp genes, emg, nerve conduction velocity testing, demyelination of peripheral nerves, consult a nutritionist, medical professional, dietary instruction, large doses of vitamin supplements containing the fat-soluble vitamins, vitamin a, vitamin d, vitamin e, vitamin k, to avoid intestinal symptoms, avoid eating long-chain triglycerides, diet should contain no more than 5 ounces of lean meat, fish, poultry per day, use skim milk instead of whole milk, a certain amount, fat is needed, normal growth, development in all people, medium chain triglycerides, alternatively used, the major source of fat, in the diet, absorbed, gut differently than other fats, avoid the intestinal symptoms, medium chain triglycerides, a dietary supplement, under the supervision of a physician, nutritionist, outcome is related, degree, progression, of neurological, visual problems, severe forms, the disease lead to irreversible neurologic disease, age 30, blindness, mental deterioration, loss of function, peripheral nerves, ataxia, infant, child exhibits symptoms of this disease, high doses of fat soluble vitamins able to slow progression, of some problems degeneration, the retina, decreased vision.