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11/55. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.

    CASE REPORT: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members (n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (GG(716)C-->GTC/Gly(154) Val) in exon 5 and a novel splice mutation (Int8/5'-dss/t( 2)c; a T-to-C transition in the invariant GT at position 2 of the 5' donor splice site (dss)) in intron 8 of the LPL gene. RESULTS: The patient's father and paternal grandmother were heterozygotes for the Int8/5'-dss/t( 2)c allele, while the patient's mother and maternal grandmother were heterozygotes for the G154V allele. These four heterozygous carriers with one defective LPL allele showed 45-57% of the mean LPL activity and mass in the post-heparin plasma (PHP) observed in normal individuals. Among the four heterozygous carriers, the patient's father, who was <40 years old, nonobese and hyperinsulinemia, manifested mild hypertriglyceridemia (type IV hyperlipoproteinemia). The remaining three healthy heterozygous carriers (two were >40 years old and the other was <40 years old) were all normolipidemic state. CONCLUSION: In this family, hyperinsulinemia as a marker of insulin resistance may be a strong determinant of hypertriglyceridemia in the carrier with heterozygous LPL deficiency.
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ranking = 1
keywords = lipoprotein, deficiency
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12/55. Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase.

    OBJECTIVES: Familial chylomicronemia syndrome is characterized by massive accumulation of plasma chylomicrons, which typically results from an absolute deficiency of lipoprotein lipase (LPL). Chylomicronemia in pregnancy is a rare, but serious clinical problem and can be found in patients with underlying molecular defects in the LPL gene. We report the course and treatment of an 18 yr-old primigravida who had LPL deficiency and hypertriglyceridemia since birth. We also analyzed the molecular basis of her LPL deficiency. DESIGN AND methods: The patient's antenatal course was complicated by extreme elevations of plasma triglycerides. Her management included a very low fat diet, pharmacotherapy with gemfibrozil in the third trimester, and intermittent hospitalization with periods of fasting supplemented by IV glucose feeding. We used dna sequencing to determine whether mutations in LPL were present. RESULTS: At 38 weeks of gestation, labor was induced, and the patient delivered a healthy 2.77 kilogram male. Postnatal triglycerides fell to prenatal levels. dna sequencing showed that she was a compound heterozygote for mutant LPL: I > T194 and R > H243. CONCLUSIONS: This experience indicates that vigilance is required during pregnancy in patients with familial chylomicronemia due to mutant LPL. gemfibrozil was used in this patient without apparent adverse effects. Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency.
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ranking = 0.83242845610241
keywords = lipoprotein, deficiency
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13/55. Chylomicronemia caused by lipoprotein lipase gene mutation related to a hyper-response of insulin secretion to glucose.

    A 39-year-old man with lipoprotein lipase (LPL) deficiency (height 177.7 cm, body weight 67 kg, and body mass index 21.2 kg/m2) showed severe hypertriglyceridemia (2,032 mg/dl). LPL activity and concentration were markedly low in postheparin plasma. LPL gene analysis revealed a homozygous mutation, Asp204 --> Glu in exon 5. fasting plasma glucose (81 mg/dl) and insulin (2.7 microU/ml) levels were normal. plasma glucose pattern during oral glucose (75 g) tolerance test was normal, however 30 minutes after glucose-loading the insulin secretion unexpectedly increased to 89.4 microU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.
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ranking = 0.82971382440963
keywords = lipoprotein, deficiency
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14/55. lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.

    lipoprotein lipase deficiency (LPLD) represents a rare ( < 1:100000), life-threatening neonatal condition, and a challenge for dietary management. We describe a neonate who developed diabetes mellitus as a feature of LPLD, without evidence of pancreatitis.
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ranking = 0.0045243861546255
keywords = deficiency
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15/55. apolipoprotein c-ii deficiency presenting as a lipid encephalopathy in infancy.

    An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. apolipoprotein c-ii, the lipoprotein on chylomicrons responsible for the activation of lipoprotein lipase, was not detectable in blood. Analysis of the APO C-II gene revealed a novel homozygous point mutation, 1118C-->A. Subsequently, another sibling has been born with the same homozygous mutation and similar biochemistry but, perhaps because of early treatment, a normal neurological outcome.
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ranking = 1.1639520349739
keywords = lipoprotein, deficiency
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16/55. Type I hyperlipoproteinemia caused by lipoprotein lipase defect in lipid-interface recognition was relieved by administration of medium-chain triglyceride.

    We have previously reported lipoprotein lipase with a defect of lipid-interface recognition in a patient with type I hyperlipoproteinemia. In this patient, lipoprotein lipase from post-heparin plasma (PHP) hydrolyzed monomeric substrate tributyrin, but scarcely hydrolyzed triolein emulsified with Triton X-100 and that in very-low-density lipoproteins ([VLDL] d < 1.006 g/mL), and did not bind to VLDL. The triglyceride (TG) level of this patient did not decrease to less than 1,000 mg/dL with a low-fat diet (1,400 kcal containing 10 g fat/d). When the patient took 30 g medium-chain TG (MCT) in addition to the 1,400-kcal diet, her serum TG level decreased to 250 mg/dL and her clinical signs improved. The low clearance rate of serum TG with heparin injection improved after intake of MCT. Caproic acid levels were maintained at 1.4% and 2.6% in chylomicrons and VLDL after MCT intake, respectively. The patient's lipoprotein lipase hydrolyzed triolein emulsified with 2% tricaprin at the same rate as that of control lipoprotein lipase. The patient's lipoprotein lipase-catalyzed hydrolyzing rate of triolein in chylomicrons obtained after MCT administration was also enhanced up to 70% of that of control lipoprotein lipase. These findings suggest that hypertriglyceridemia caused by lipoprotein lipase with a defect in lipid-interface recognition could be relieved with the administration of medium-chain TG, and that one of the mechanisms of this effect might be a modification of TG-rich lipoproteins by MCT.
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ranking = 2.9837122098433
keywords = lipoprotein
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17/55. Severe acute necrotizing pancreatitis associated with lipoprotein lipase deficiency in childhood.

    An 11-year-old girl with lipoprotein lipase deficiency experienced recurring episodes of abdominal pain. She initially underwent appendectomy for suspected appendicitis; however, the appendix was normal. pancreatitis was subsequently identified as the cause of her pain.
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ranking = 0.83333333333333
keywords = lipoprotein, deficiency
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18/55. A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.

    Here we report on the molecular defect that leads to a deficiency of lipoprotein lipase (LPL) activity in a proband of Dutch descent. Southern-blot analysis of the LPL gene from the patient did not reveal any major dna rearrangements. Sequencing of polymerase-chain-reaction-amplified dna revealed that the proband is a homozygote for G725C, resulting in a substitution of Pro157 for Arg. This substitution alters a restriction site for PvuII, which allowed rapid identification of the mutant allele in family members. Site-directed mutagenesis and transient expression of the mutant LPL in cos cells produced an enzymatically inactive protein, establishing the functional significance of this mutation. This naturally occurring mutation which alters the Pro157 adjacent to Asp156 of the proposed catalytic triad, indicates that this region of the protein is indeed crucial for LPL catalytic activity.
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ranking = 0.82971382440963
keywords = lipoprotein, deficiency
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19/55. A G

   C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family.     We describe a new case of lipoprotein lipase deficiency in a proband from a Southern-Italian family. Enzyme activity and mass were absent. Amplification and sequencing of individual exons, intron boundaries and the regulatory region revealed only one homozygous G   C transversion at the first nucleotide of intron 1. The single strand conformation polymorphism analysis proved to be a helpful tool for the identification of the single base mutation. Northern hybridization failed to reveal the presence of mature lipoprotein lipase mRNA. The mutation, which destroys the conserved dinucleotide at the junction site of intron 1, causes defective mRNA splicing and it is responsible for the deficiency.
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ranking = 1
keywords = lipoprotein, deficiency
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20/55. ApoC-IIParis2: a premature termination mutation in the signal peptide of apoC-II resulting in the familial chylomicronemia syndrome.

    The chemical mismatch method has been utilized to screen for mutations in the apoC-II gene of a patient with familial chylomicronemia and apoC-II deficiency. Cleavage of heteroduplexes formed between normal and patient dna strands with hydroxylamine and osmium tetroxide readily localized a mutation near base 2660 of the mutant apoC-II. sequence analysis of PCR amplified patient dna in the mismatched region localized by this method identified the substitution of a thymidine (T) for a cytosine (C) at base 2668 in exon 2 of the patient's gene within a CpG dinucleotide. The C to T transition in the apoC-IIParis2 gene leads to the introduction of a premature termination codon (TGA) at a position corresponding to amino acid-19 of the signal peptide of apoC-II and the formation of a new Nla III restriction enzyme site absent in the normal apoC-II gene. Consistent with the history of consanguinity in this kindred, amplification of dna isolated from the proband's parents by the polymerase chain reaction and digestion with Nla III established that the proband is a true homozygote for this genetic defect. Analysis of the patient's plasma by two-dimensional gel electrophoresis and immunoblotting failed to detect any plasma apoC-II. Thus, we have identified a novel mutation in the apoC-II gene of a patient with apoC-II deficiency from a paris kindred presenting with severe hypertriglyceridemia and chylomicronemia.(ABSTRACT TRUNCATED AT 250 WORDS)
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ranking = 0.0018097544618502
keywords = deficiency
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