abetalipoproteinemia การใช้

The disease is transmitted as an autosomal recessive trait . or abetalipoproteinemia.
An excess of sphingomyelin in the red blood cell membrane ( as in abetalipoproteinemia ) causes excess lipid accumulation in the outer leaflet of the red blood cell plasma membrane.
Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann Pick type C disease, Refsum's disease, glucose transporter type 1 deficiency, episodic ataxia type 2, gluten ataxia, glutamic acid decarboxylase ataxia.
"' 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.
They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several inherited neurological and other disorders, such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic granulomatous disease.