• As apoE2 binds defectively to LDL receptors, apoE2 homozygosity can precipitate type III hyperlipoproteinemia, however, only occurs when another condition, including: diabetes, oestrogen deficiency, hypothyroidism, or obesity, leads to the overproduction of VLDL or fewer LDL receptors, overwhelming the limited ability of apoE2 to mediate the clearance of triglyceride-rich and cholesterol-rich β-VLDL. (randox.com)
  • citation needed] Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from the digestive tract to the liver Familial apoprotein CII deficiency (type Ib), a condition caused by a lack of lipoprotein lipase activator. (wikipedia.org)
  • GSD type Ic is deficiency of translocase T2 that carries inorganic phosphates from microsomes into the cytosol and pyrophosphates from the cytosol into microsomes. (medscape.com)
  • GSD type Id is deficiency in a transporter that translocates free glucose molecules from microsomes into the cytosol. (medscape.com)
  • GSD type II, also known as acid maltase deficiency or Pompe disease, is a prototypic lysosomal disease. (medscape.com)
  • Muscle phosphorylase deficiency adversely affecting the glycolytic pathway in skeletal musculature causes GSD type V. Like other forms of GSD, McArdle disease is heterogeneous. (medscape.com)
  • GSD type VII, also known as Tarui disease, arises as a result of phosphofructokinase (PFK) deficiency. (medscape.com)
  • This pathology, however, is the second-most common disorder of the various hyperlipoproteinemias, with individuals with a heterozygotic predisposition of one in every 500 and individuals with homozygotic predisposition of one in every million. (wikipedia.org)
  • GSD type Ia demonstrates deficient G6Pase activity in the fresh and frozen liver tissue. (medscape.com)
  • In contrast to GSD type I, liver and skeletal muscles are involved in GSD type III. (medscape.com)
  • Glycogen storage disease (GSD) type I is also known as von Gierke disease or hepatorenal glycogenosis. (medscape.com)
  • GSD type III is also known as Forbes-Cori disease or limit dextrinosis. (medscape.com)
  • GSD type IV, also known as amylopectinosis or Andersen disease, is a rare disease that leads to early death. (medscape.com)
  • GSD type V, also known as McArdle disease, affects the skeletal muscles. (medscape.com)
  • GSD type VI, also known as Hers disease, belongs to the group of hepatic glycogenoses and represents a heterogenous disease. (medscape.com)
  • For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
  • Patients in the tamoxifen only arm had an increased incidence of vaginal symptoms, thromboembolic events, stroke, and endometrial cancer. (medilabcompounding.com)
  • Apart from the substrate translocation defect, patients with GSD type Ib have altered neutrophil functions predisposing them to gram-positive bacterial infections. (medscape.com)
  • Differentiating patients with GSD type III from those with GSD type I solely on the basis of physical findings is not easy. (medscape.com)
  • 533 Chylomicronemia due to circulating inhibitor of lipoprotein lipase (type Ic) Type I hyperlipoproteinemia usually presents in childhood with eruptive xanthomata and abdominal colic. (wikipedia.org)
  • For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
  • With a multiomic approach, we can help you and your patients accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing - saving time, resources, and pivotal years during which IMDs can rapidly progress. (centogene.com)
  • The symptoms depend upon the specific type of EDS. (asperbio.com)
  • Inherited metabolic disorders (IMDs) are life-long conditions and patients have a wide range of symptoms and needs. (centogene.com)