Definition:
Bassen-Kornzweig syndrome, also known as abetalipoproteinemia, is a rare disorder that is caused by the irregular fat absorption during digestion. Patients in this condition usually lack important vitamins such as A, D, E and K.
Diagnosis:
The disease can be determined by examining the presence of the symptoms, genetic counseling and MRI.
Treatment:
Treatment for the illness includes proper diet, sufficient amounts of vitamin E via supplements, and occupational therapy.
Symptoms and Signs:
The signs of the illness are the failure to thrive, irregular-shaped red blood cells and fatty, foul-smelling stools. These symptoms can bring about extreme pain on the patient, and may as well cause anomalies in the central nervous system.
Causes:
Bassen-Kornzweig syndrome is an autosomal recessive disorder.
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