These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Hereditary plasma lecithin-cholesterol acyl transferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities.
    Author: Jain SK, Mohandas N, Sensabaugh GF, Shojania AM, Shohet SB.
    Journal: J Lab Clin Med; 1982 Jun; 99(6):816-26. PubMed ID: 7077125.
    Abstract:
    LCAT esterifies cholesterol to cholesterol ester. This study describes a family with plasma LCAT deficiency with a heterozygous variant. It was found that both parents and one son had half the normal plasma LCAT activity whereas their only daughter and other son exhibited zero plasma LCAT activity, suggesting an autosomal co-dominant inheritance of the enzyme deficiency. Erythrocyte membrane abnormalities (e.g., increased erythrocyte PC and cholesterol) that were associated with patients with zero plasma LCAT were also observed in family members with half the LCAT. Additionally, erythrocytes from LCAT-deficient individuals were more susceptible to peroxidant threat and had membranes that were more mechanically unstable than those from individuals with normal plasma LCAT activity.
    [Abstract] [Full Text] [Related] [New Search]