Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

¥16,600
  • TEST OVERVIEW:
    Affected cats with chylomicronemia share many phenotypic features with human lipoprotein lipase (LPL) deficiency. Biochemical analysis reveals that these cats do have defective LPL catalytic activity and have a clinical phenotype very similar to human LPL deficiency. Symptoms include reduced body mass, growth rates and an increased rate of stillbirths.
  • カテゴリー:
    代謝疾患 - 細胞内の酵素および代謝プロセスに関連する疾患
  • static-content..gene:
    LPL on Chromosome B1
  • Variant Detected:
    Base Substitution G>A
  • Severity:
    Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
  • MODE OF INHERITANCE:
    Autosomal Recessive
  • RESEARCH CITATION(S):
    J Clin Invest. 1996 Mar 1;97(5):1257-66

Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

¥16,600

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