Abetalipoproteinemia is a disorder that interferes with the normal absorption of fat and Abetalipoproteinemia. Synonyms, Bassen-Kornzweig syndrome. Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia. Prevalence: <1 / 1 ; Inheritance: Autosomal recessive; Age of onset: Infancy. BASSEN FA, KORNZWEIG AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. Apr;5(4)– [PubMed]; DRUEZ G .
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Links to other sites are provided for information only — they do not constitute endorsements of those other syndtome. Lipoproteins are macromolecular complexes consisting of lipids and proteins. Some current clinical trials also are posted on the following page on the NORD website: Prognosis The prognosis is severe, with a significantly reduced life expectancy.
The person is unable to fully absorb dietary fats through the intestines.
Orphanet J Rare Dis. Neuromuscular disorder resembling Friedreich’s ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism. Gene therapy for dyslipidemia: The inability to absorb fat in the ileum will result in steatorrheaor fat in the stool. A complete neurological assessment, an eye examination, an endoscopy, and a liver hepatic ultrasound may be performed to evaluate the presence of potentially associated symptoms. Mutations of the MTTP gene lead to low levels of functional MTP, which in turn, hinders the liver and intestines from making and secreting bassen-krnzweig lipoproteins.
As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Affected infants often fail to gain weight and grow at the expected rate failure to thrive.
Abetalipoproteinemia – NORD (National Organization for Rare Disorders)
General Discussion Summary Abetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Vitamin D supplementation may help alleviate some of the symptoms associated with bone growth. Vitamin E also helps bassem-kornzweig skin and eyes healthy; studies show that many affected males will have vision problems later on in life.
Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in and is also known as Bassen-Kornzweig syndrome.
National Center for Biotechnology InformationU. On having no beta-lipoprotein.
Ptosis, ophthalmoplegia, strabismus, and nystagmus are less common findings. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Some individuals may develop diabetes mellitus. Low levels of MTP may lead to fat accumulation in the heart and affect heart function. Investigational Therapies Gene therapy has been studied as another approach to treat individuals with abetalipoproteinemia.
Retrieved from ” https: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
Health Illustrated Encyclopedia – Bassen-Kornzweig syndrome
Tests that may be done to help diagnose this condition include: It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Only comments written in English can be processed.
This protein is required for the proper assembly and secretion of apoB-containing lipoproteins in the liver and intestines. Orphanet Encyclopedia, May Individuals with abetalipoproteinemia may also have blood abnormalities including a condition called acanthocytosis in which deformed i.
Bassen-Kornzweig syndrome. Present status.
Compendium of Inherited Disorders and the Eye. Genetic testing may be available for mutations in the MTP gene. The signs and symptoms of abetalipoproteinemia appear in the first few months of life because pancreatic lipase is not active in this period.