Rare Rheumatology News
Disease Profile
Abetalipoproteinemia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Childhood
ICD-10
E78.6
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Bassen Kornzweig syndrome; Microsomal triglyceride transfer protein deficiency disease; Microsomal triglyceride transfer protein deficiency;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can be difficult to predict. Abetalipoproteinemia is diagnosed based on clinical exam, laboratory tests showing abnormally low cholesterol, and confirmed by
Symptoms
- inability to absorb fats and some vitamins
- poor growth in infancy
- digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools)
- abnormal, star-shaped
red blood cells (acanthocytosis)
Because abetalipoproteinemia is extremely rare, the course of the disease is difficult to predict. This condition is usually diagnosed in infancy due to diarrhea, vomiting and poor growth. Most individuals with this condition are treated with excess vitamins and a special, fat-controlled diet and have few complications. Untreated individuals with abetalipoproteinemia can develop gradual vision loss, muscle weakness, tremors, and slow or slurred speech that gets worse over time.[3][4][5]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.