Homozygous hypobetalipoproteinemia
Overview
Inherited low blood betalipoprotein level. The type and severity of symptoms is determined by whether or not there are some betalipoproteins in the body.
Symptoms
* Asymptomatic * Severely reduced low density lipoprotein cholesterol level * Fatty liver * Low level of serum lipid-soluble vitamin A * Low level of serum lipid-soluble vitamin D * Acanthocytosis * Fat malabsorption * Neurological disease * Ataxia * Retinitis pigmentosa
Diagnosis
signs and symptoms of Homozygous hypobetalipoproteinemia may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Homozygous hypobetalipoproteinemia symptoms.