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Abetalipoproteinaemia

Synonyms
Abetalipoproteinemia; Abetalipoproteinemia neuropathy; Apolipoprotein B deficiency; Bassen Kornzweig syndrome; Betalipoprotein deficiency disease; Congenital betalipoprotein deficiency syndrome; Low-density beta lipoprotein deficiency; MTP DEFICIENCY; Microsomal triglyceride transfer protein deficiency disease; Microsomal-triglyceride transfer protein deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Abetalipoproteinemia
Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
John R Burnett
Amanda J Hooper
Robert A Hegele
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Available tests

79 tests are in the database for this condition.

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Clinical tests (79 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABL, MTP, MTTP
    Summary: microsomal triglyceride transfer protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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