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ENAbetalipoproteinemia (ABL)
Alias:
Acanthocytosis
Bassen-Kornzweig Syndrome
Abetalipoproteinaemia
Familial Hypobetalipoproteinemia
Mtp Deficiency
Abl
Microsomal Triglyceride Transfer Protein Deficiency Disease
Microsomal Triglyceride Transfer Protein Deficiency
Abetalipoproteinemia Neuropathy
Bassen-Kornzweig Disease
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Congenital Betalipoprotein Deficiency Syndrome
Homozygous Familial Hypobetalipoproteinemia
Betalipoprotein Deficiency Disease
Apolipoprotein B Deficiency
Hypobetalipoproteinemias
Hypobetalipoproteinemia
Fhbl
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Abetalipoproteinemia, also known as acanthocytosis, is related to mitochondrial trifunctional protein deficiency 1 and hypobetalipoproteinemia, familial, 2, and has symptoms including ataxia An important gene associated with Abetalipoproteinemia is MTTP (Microsomal Triglyceride Transfer Protein), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs DL-alpha-Tocopherol and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include eye and liver, and related phenotypes are steatorrhea and abnormality of the nervous system
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MALACARDS
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