Abetalipoproteinemia

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Abetalipoproteinemia, or Bassen-Kornzweig syndrome

[edit] Definition

A rare autosomal recessive disorder that inhibits normal absorption of dietary fats, cholesterol, and fat-soluble vitamins. It is associated with a defect in the microsomal triglyceride transfer protein (MTP) gene.

[edit] Description, Signs and Symptoms

The signs and symptoms of abetalipoproteinemia appear in the first few months of life. Many of the signs and symptoms of abetalipoproteinemia are associated with severe vitamin deficiency, especially vitamin E deficiency, which is the cause of the nerve problems often associated with this condition.

Possible Symptoms:

Balance and coordination difficulties
Curvature of spine
Continual decline in vision
Developmental delay
Muscle weakness
Stool abnormalities, including:
- Fatty stools that appear pale in color
- Frothy stools
- Abnormally foul-smelling stools

[edit] Inheritance

This condition is inherited as an autosomal recessive trait, so the parents of an individual with this condition must each carry one copy of the mutated gene, even though they typically do not show signs and symptoms of the condition themselves.

[edit] Diagnosis

The inability to absorb fat in the ileum results in steatorrhea, or fat in the stool, which can be clinically diagnosed when foul-smelling stool is found. Low levels of plasma chylomicron are also characteristic. Acanthocytes are seen on blood smear. There is an absence of apolipoprotein B and an intestinal biopsy will show enterocytes with vacuoles containing lipids. This disorder can also lead to fat accumulation in the liver, known as hepatic steatosis, which results in improper absorption.

[edit] Treatment and Management

A nutritionist or other medical professional may suggest a rigorous dietary plan along with mass doses of vitamin supplements containing the fat-soluble vitamins (vitamin A, vitamin D, vitamin E and vitamin K). Linoleic acid supplements are also recommended at times.

[edit] Prognosis

The progression of neurological and visual problems lead to varied outcomes, but severe forms of the disease lead to irreversible neurologic disease before age 30.