Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Preferred term
Hyperlipoproteinemia Type I
Type
-
mesh:Descriptor
Definition
- An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
Broader concept
Entry terms
- Burger-Grutz Syndrome
- Chylomicronemia, Familial
- Familial Hyperchylomicronemia
- Familial Hyperlipoproteinemia Type 1
- Familial Lipoprotein Lipase Deficiency
- Familial LPL Deficiency
- Hyperchylomicronemia, Familial
- Hyperlipemia, Essential Familial
- Hyperlipemia, Idiopathic, Burger-Grutz Type
- Hyperlipoproteinemia, Type I
- Hyperlipoproteinemia Type Ia
- Hyperlipoproteinemia, Type Ia
- Lipase D Deficiency
- LIPD Deficiency
- Lipoprotein Lipase Deficiency
- Lipoprotein Lipase Deficiency, Familial
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Hyperchylomicronémie familiale
-
Hyperlipoprotéinémie de type 1
-
Hyperlipoprotéinémie type 1
URI
http://data.loterre.fr/ark:/67375/JVR-XXZPJT41-C
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