Cases reported "Abetalipoproteinemia"

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1/65. Abetalipoproteinaemia. A case report with pathological studies.

    The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin e. The rationale for this therapy, and the possible reasons for its failure are discussed.
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keywords = lipoprotein
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2/65. Blood dolichols in a patient with abetalipoproteinaemia.

    dolichol and dolichyl derivatives have an important function as glycosyl carriers in the assembly of the N-asparaginyl-linked oligosaccharide core region of glycoproteins. Dolichols are synthesized through the cholesterol biosynthesis pathways in all mammalian organs and are present in all tissues, and are also associated with lipoproteins in the blood circulation. However, the origin and metabolic pathway of blood dolichols remain unknown. Abetalipoproteinaemia is a disorder of the secretion of very low-density lipoprotein (VLDL) from the liver and of chylomicrons from the intestine into the blood circulation. Therefore, examination of blood dolichols in this disorder may provide valuable information on their origin and metabolic pathway. Dolichols were exclusively associated with the high-density lipoprotein (HDL) fraction (80.7 /- 6.3% of total dolichols) in control human blood. serum from a patient also contained dolichols in the HDL fraction (82.8% of total dolichols). The total amount of dolichols was higher in the patient (207.0 ng/mL) than in the controls (106.2 /- 22.7 ng/mL, n = 14). The compositions of dolichols were very similar to each other. These results indicated that, at least in the patient with abetalipoproteinaemia, the HDL-associated dolichols were possibly derived from the liver not through other lipoproteins but through dolichol transfer protein, or were possibly taken up and carried by HDL from peripheral tissues.
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3/65. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

    abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma. Only limited numbers of families have been screened for mutations in the microsomal triglyceride transfer protein (MTP) gene. To clarify the genetic basis of clinical diversity of ABL, mutations of the MTP gene have been screened in 4 unrelated patients with ABL. Three novel mutations have been identified: a frameshift mutation caused by a single adenine deletion at position 1389 of the cDNA, and a missense mutation, Asn780Tyr, each in homozygous forms; and a splice site mutation, 2218-2A-->G, in a compound heterozygous form. The frameshift and splice site mutations are predicted to encode truncated forms of MTP. When transiently expressed in Cos-1 cells, the Asn780Tyr mutant MTP bound protein disulfide isomerase (PDI) but displayed negligible MTP activity. It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin e were virtually undetectable. These results indicated that defects of the MTP gene are the proximal cause of ABL.
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ranking = 1.4
keywords = lipoprotein
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4/65. rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia.

    OBJECTIVE: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipoproteinemia, and elucidation of its pathophysiology in these conditions. METHODOLOGY: Two infants aged two and six months with abetalipoproteinemia and hypobetalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. RESULTS: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin d deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. CONCLUSION: steatorrhea-induced calcium malabsorption seems to be the most likely cause of rickets in this entity.
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ranking = 2.4015908213116
keywords = lipoprotein, deficiency
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5/65. abetalipoproteinemia: a case report.

    abetalipoproteinemia is a rare autosomal recessive disorder characterized by steatorrhea, poor weight gain, acanthocytosis and retinitis pigmentosa. Here we peresent a six-month-old patient with abetaliporoteinemia. He had a history of chronic diarrhea from the first month of life. He was cachectic and his motor development was delayed. Microscopic examination of the stool revealed fat. Mild anemia with reticulocytosis, acanthocytosis, low triglyceride, low cholesterol, low-density lipoprotein, high-density lipoprotein, and apolipoprotein A and B were detected. Ophthalmological examination was normal. Peroral jejunal capsule biopsy revealed normal villi and significant lipid deposition in the cytoplasm of affected cells. The patient was given large doses of vitamins E and A.
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ranking = 1.6
keywords = lipoprotein
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6/65. abetalipoproteinemia-like lipid profile and acanthocytosis in a young woman with anorexia nervosa.

    We report the case of a 17-year-old woman with anorexia nervosa (AN) who developed an abetalipoproteinemia-like lipid profile and acanthocytosis. These abnormalities resolved slowly as her nutritional status improved. We considered 3 possible causes of an abetalipoproteinemia-like lipid profile in AN: (1) depletion of hepatic substrate for apolipoprotein B synthesis, (2) lack of exogenous fatty acids with exhaustion of endogenous stores of triglycerides in adipose tissue, and (3) preservation of the lipoprotein lipase (LPL) mass. This unusual case provides important clues that enhance our understanding of lipid metabolism under exogenous and endogenous fat deprivation and highlights the pivotal role of LPL as a gatekeeper of the energy source.
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ranking = 1.6
keywords = lipoprotein
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7/65. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.

    abetalipoproteinemia (ABL) is a rare autosomal recessive disorder that is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. This disorder results from mutations in the MTP gene encoding the microsomal triglyceride transfer protein. We report a 58-year-old male homozygote for a missense mutation, S590I, in MTP. The patient had a lifelong history of fat malabsorption, but was only diagnosed with ABL at age 52, based upon such classic features as absence of apo B-containing lipoproteins, acanthocytosis, atypical retinitis pigmentosa and markedly depressed serum beta-carotene concentration. However, his presentation was notable not only by survival to the sixth decade of life without specific treatment, but also by the absence of neurological involvement and by normal serum vitamin e concentration. He subsequently developed adenocarcinoma of the ileum, which required ileal resection. Therefore, this missense mutation appears to be associated with a late-presenting and relatively mild ABL phenotype that lacks some classical features, particularly neuropathy, but appears to be associated with other atypical features, specifically small intestinal cancer.
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keywords = lipoprotein
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8/65. ophthalmoplegia and dissociated nystagmus in adetalipoproteinemia.

    A characteristic pattern of acquired exotropia, progressive paresis of the medial rectus muscles, and dissociated nystagmus on lateral gaze was found in three patients with abetalipoproteinemia. Study with electronystagmography of the eye movements of one patient revealed abnormally slow voluntary saccades and slow or absent fast components of vestibular nystagmus, optokinetic nystagmus, and jerk-type, disassociated nystagmus. Defects in central nervous system centers generating saccadic eye movements are postulated.
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keywords = lipoprotein
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9/65. The jejunal mucosa in two cases of A-beta-lipoproteinemia.

    The jejunal biopsy appearances in two cases of a-beta-lipoproteinemia are described and compared with those of previous cases recorded in the literature. No significant differences were noted in one of the cases in the appearances of a biopsy taken before and another taken after 10 months of treatment.
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keywords = lipoprotein
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10/65. Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

    This article describes two siblings with infantile refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.
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ranking = 0.2
keywords = lipoprotein
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