Hypobetalipoproteinaemia (Q40098): Difference between revisions
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A hipobetalipoproteinemia constitui um grupo de transtornos do metabolismo das lipoproteínas que se caracterizam por níveis permanentemente baixos (abaixo do 5º percentil) de apolipoproteína B e colesterol LDL. Existem dois tipos de HBL: hipobetalipoproteinemia familiar e doença de retenção de quilomícrons. A forma familiar pode ser grave com início precoce (abetalipoproteinemia/hipobetalipoproteinemia familiar homozigótica) ou benigna (hipobetalipoproteinemia familiar benigna). hipobetalipoproteinemia familiar grave e a doença de retenção de quilomicrons aparecem na primeira infância ou na infância. Como resultado, eles são frequentemente associados a retardo de crescimento, diarreia com esteatorreia e má absorção de gordura. A hipobetalipoproteinemia familiar benigna é geralmente assintomática, mas em adultos está ocasionalmente associada à intolerância alimentar à gordura. Os distúrbios da hipobetaliporoteinemia são causados por mutações em proteínas envolvidas na síntese, secreção e catabolismo de lipoproteínas contendo apolipoproteína B (LDL, VLDL e quilomícrons). | |||
| description / en | description / en | ||
Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. There are two types of HBL: familial hypobetalipoproteinemia and chylomicron retention disease (CMRD; see these terms). The familial form can be severe with early onset (abetalipoproteinemia/homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). (Please add the sentence). Severe familial HBL and CMRD appear in infancy or childhood. As a result they are often associated with growth delay, diarrhoea with steatorrhoea, and fat malabsorption. Benign familial hypobetalipoproteinemia is generally asymptomatic, but in adults is occasionally associated with dietary intolerance to fat. HBL disorders are caused by mutations in proteins involved in the synthesis, secretion and catabolism of lipoproteins containing apolipoprotein B (LDL, VLDL and chylomicrons). | |||
Revision as of 05:46, 13 August 2026
Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. There are two types of HBL: familial hypobetalipoproteinemia and chylomicron retention disease (CMRD; see these terms). The familial form can be severe with early onset (abetalipoproteinemia/homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). (Please add the sentence). Severe familial HBL and CMRD appear in infancy or childhood. As a result they are often associated with growth delay, diarrhoea with steatorrhoea, and fat malabsorption. Benign familial hypobetalipoproteinemia is generally asymptomatic, but in adults is occasionally associated with dietary intolerance to fat. HBL disorders are caused by mutations in proteins involved in the synthesis, secretion and catabolism of lipoproteins containing apolipoprotein B (LDL, VLDL and chylomicrons).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C81.1 |
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| English | Hypobetalipoproteinaemia |
Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. There are two types of HBL: familial hypobetalipoproteinemia and chylomicron retention disease (CMRD; see these terms). The familial form can be severe with early onset (abetalipoproteinemia/homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). (Please add the sentence). Severe familial HBL and CMRD appear in infancy or childhood. As a result they are often associated with growth delay, diarrhoea with steatorrhoea, and fat malabsorption. Benign familial hypobetalipoproteinemia is generally asymptomatic, but in adults is occasionally associated with dietary intolerance to fat. HBL disorders are caused by mutations in proteins involved in the synthesis, secretion and catabolism of lipoproteins containing apolipoprotein B (LDL, VLDL and chylomicrons). |
