Concept information
Nutritional and Metabolic Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Nutritional and Metabolic Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Preferred term
Hyperlipoproteinemia Type I
Type
-
Topical Descriptor
Broader concept
Entry terms
- Burger Grutz Syndrome
- Burger-Grutz Syndrome
- Burger-Grutz Syndromes
- Chylomicronemia, Familial
- Chylomicronemias, Familial
- Deficiencies, Familial LPL
- Deficiencies, Lipase D
- Deficiencies, LIPD
- Deficiencies, Lipoprotein Lipase
- Deficiency, Familial LPL
- Deficiency, Lipase D
- Deficiency, LIPD
- Deficiency, Lipoprotein Lipase
- Essential Familial Hyperlipemia
- Essential Familial Hyperlipemias
- Familial Chylomicronemia
- Familial Chylomicronemias
- Familial Hyperchylomicronemia
- Familial Hyperchylomicronemias
- Familial Hyperlipemia, Essential
- Familial Hyperlipemias, Essential
- Familial Hyperlipoproteinemia Type 1
- Familial Lipoprotein Lipase Deficiency
- Familial LPL Deficiencies
- Familial LPL Deficiency
- Hyperchylomicronemia, Familial
- Hyperchylomicronemias, Familial
- Hyperlipemia, Essential Familial
- Hyperlipemia, Idiopathic, Burger-Grutz Type
- Hyperlipemias, Essential Familial
- Hyperlipoproteinemias, Type I
- Hyperlipoproteinemias, Type Ia
- Hyperlipoproteinemia, Type I
- Hyperlipoproteinemia Type Ia
- Hyperlipoproteinemia, Type Ia
- Hyperlipoproteinemia Type Ias
- Lipase D Deficiencies
- Lipase D Deficiency
- Lipase Deficiencies, Lipoprotein
- LIPD Deficiencies
- LIPD Deficiency
- Lipoprotein Lipase Deficiencies
- Lipoprotein Lipase Deficiency
- Lipoprotein Lipase Deficiency, Familial
- LPL Deficiencies, Familial
- LPL Deficiency, Familial
- Syndrome, Burger-Grutz
- Syndromes, Burger-Grutz
- Type Ia Hyperlipoproteinemia
- Type Ia Hyperlipoproteinemias
- Type I Hyperlipoproteinemia
- Type I Hyperlipoproteinemias
Scope note
- 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.
History note
- 2007 (1980)
In other languages
-
Finnish
-
familiaalinen lipoproteiinilipaasin puutos
-
familiaalinen lipoproteiinilipaasipuutos
-
familiaarinen lipoproteiinilipaasin puutos
-
familiaarinen lipoproteiinilipaasipuutos
-
suvuittainen lipoproteiinilipaasin puute
-
suvuittainen lipoproteiinilipaasipuute
-
Swedish
-
Apolipoprotein C-II brist
-
Buerger-Gruetz syndrom
-
Familjär hyperkylomikronemi
-
Familjär lipoproteinlipasbrist
-
Familjär LPL-brist
-
Hyperlipoproteinemi typ 1b
-
Typ 1b hyperlipoproteinemi
URI
http://www.yso.fi/onto/mesh/D008072
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}