ReviewJournal of atherosclerosis and thrombosis2021
Current Diagnosis and Management of Abetalipoproteinemia.
Review in Journal of atherosclerosis and thrombosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 47 citations in OpenAlex.
- Hypocholesterolemia in liver and cardiovascular disease: Friend or foe?Journal of internal medicine · 2026Review
- Abetalipoproteinemia With a Novel Microsomal Triglyceride Transfer Protein Gene Mutation and Unique Oxidized Lipoprotein Levels.Journal of medical cases · 2026Article
- Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.Annals of internal medicine. Clinical cases · 2026Article
- Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.Journal of lipid and atherosclerosis · 2026Review
- Directly Measuring Atherogenic Lipoprotein Kinetics in Zebrafish With the Photoconvertible LipoTimer Reporter.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.Diagnostics (Basel, Switzerland) · 2025Article
- Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.Journal of personalized medicine · 2025Article
- Dietary and lifestyle interventions for the management of hereditary ataxias.Frontiers in nutrition · 2025Review
- A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.Journal of atherosclerosis and thrombosis · 2024Article
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.Journal of atherosclerosis and thrombosis · 2024Review
- Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.International journal of molecular sciences · 2024Article
- Transitional Medicine of Intractable Primary Dyslipidemias in Japan.Journal of atherosclerosis and thrombosis · 2024Review
- Lipoprotein Particles in Cerebrospinal Fluid.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- The first Japanese case with familial combined hypolipidemia without any complications caused by loss-of function variants inHeliyon · 2024Article
- Exploring the role of genetic variations in NAFLD: implications for disease pathogenesis and precision medicine approaches.European journal of medical research · 2024Review
- Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.Orphanet journal of rare diseases · 2024Review
- Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.Molecular genetics and metabolism · 2023Review
- Exquisite Balance Between Cholesterol Synthesis and Cholesterol Absorption in Human.Journal of atherosclerosis and thrombosis · 2023Article
- A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.Movement disorders clinical practice · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical signs and symptoms, diagnosis, and management of ABL, and 2) propose diagnostic criteria that define eligibility to receive financial support from the Japanese government for patients with ABL as a rare and intractable disease. In addition, our diagnostic criteria and the entry criterion of low-density lipoprotein cholesterol (LDL-C) ＜15 mg/dL and apoB ＜15 mg/dL can be useful in universal or opportunistic screening for the disease. Registry research on ABL is currently ongoing to better understand the disease burden and unmet needs of this life-threatening disease with few therapeutic options.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.