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'''Inborn error of lipid metabolism''' is a group of genetic disorders characterized by the body's inability to properly metabolize lipids, or fats. These disorders can result in a variety of health problems, including organ damage, neurological impairment, and in severe cases, death.  
{{SI}}
 
{{Infobox medical condition
==Types of Inborn Errors of Lipid Metabolism==
| name            = Inborn error of lipid metabolism
 
| image          = [[File:Rasyslami.jpg|250px]]
There are several types of inborn errors of lipid metabolism, including:
| caption        =
 
| field          = [[Endocrinology]]
* [[Fatty acid oxidation disorders]]: These disorders occur when the body is unable to break down certain types of fats into energy, leading to a buildup of fatty acids in the body. Examples include [[Medium-chain acyl-CoA dehydrogenase deficiency]] (MCADD) and [[Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency]] (LCHADD).
| symptoms        = [[Hyperlipidemia]], [[lipid storage disorder]]
 
| complications  = [[Atherosclerosis]], [[pancreatitis]]
* [[Lysosomal storage diseases]]: These are a group of disorders that result from the buildup of certain substances in the body's cells. Examples include [[Gaucher's disease]] and [[Niemann-Pick disease]].
| onset          = Varies by specific condition
 
| duration        = Chronic
* [[Peroxisomal disorders]]: These disorders occur when the body's peroxisomes, small structures within cells that help break down fats, are not functioning properly. Examples include [[Zellweger syndrome]] and [[Adrenoleukodystrophy]].
| causes          = Genetic mutations affecting lipid metabolism
 
| risks          = Family history, genetic predisposition
==Symptoms==
| diagnosis      = [[Blood test]], [[genetic testing]]
 
| differential    = [[Hyperlipoproteinemia]], [[Gaucher's disease]], [[Niemann-Pick disease]]
The symptoms of inborn errors of lipid metabolism can vary widely depending on the specific disorder and its severity. They may include:
| prevention      = Genetic counseling
 
| treatment      = [[Dietary management]], [[medication]]
* [[Failure to thrive]]: This refers to a child's inability to gain weight or grow at the expected rate.
| medication      = [[Statins]], [[fibrates]], [[bile acid sequestrants]]
* [[Hepatomegaly]]: This is the medical term for an enlarged liver.
| prognosis      = Varies by specific condition
* [[Neurological impairment]]: This can include developmental delays, seizures, and other neurological problems.
| frequency      = Rare
* [[Cardiomyopathy]]: This is a disease of the heart muscle that can lead to heart failure.
}}
 
{{DISPLAYTITLE:Inborn Error of Lipid Metabolism}}
==Diagnosis and Treatment==
An '''inborn error of lipid metabolism''' refers to a group of genetic disorders that affect the body's ability to metabolize lipids, which are essential components of cell membranes and serve as energy sources. These disorders are typically caused by mutations in genes that encode enzymes or proteins involved in lipid metabolism.
 
== Pathophysiology ==
Diagnosis of inborn errors of lipid metabolism typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing may also be used to confirm a diagnosis.
Lipid metabolism involves the breakdown, synthesis, and transport of lipids within the body. Inborn errors of lipid metabolism can lead to the accumulation or deficiency of specific lipids, resulting in a variety of clinical manifestations. These disorders can affect multiple organ systems, including the nervous system, liver, and cardiovascular system.
 
== Types of Inborn Errors ==
Treatment for these disorders typically involves dietary management to limit the intake of certain fats, and in some cases, medications or enzyme replacement therapy may be used. In severe cases, organ transplantation may be necessary.
There are several types of inborn errors of lipid metabolism, each associated with specific enzyme deficiencies or transport defects. Some of the most well-known include:
 
* '''[[Gaucher's disease]]''': Caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside.
==See Also==
* '''[[Niemann-Pick disease]]''': Characterized by the accumulation of sphingomyelin due to a deficiency in sphingomyelinase.
 
* '''[[Fabry disease]]''': Results from a deficiency in alpha-galactosidase A, causing the accumulation of globotriaosylceramide.
* '''[[Tay-Sachs disease]]''': Caused by a deficiency in hexosaminidase A, leading to the accumulation of GM2 ganglioside.
== Clinical Manifestations ==
The clinical presentation of inborn errors of lipid metabolism can vary widely depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms may include:
* Neurological deficits, such as developmental delay, seizures, and neuropathy.
* Hepatosplenomegaly, or enlargement of the liver and spleen.
* Cardiovascular complications, including heart disease and stroke.
* Skin abnormalities, such as angiokeratomas in Fabry disease.
== Diagnosis ==
Diagnosis of inborn errors of lipid metabolism typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Enzyme assays can be used to measure the activity of specific enzymes in blood or tissue samples. Genetic testing can identify mutations in the genes associated with these disorders.
== Treatment ==
Treatment options for inborn errors of lipid metabolism vary depending on the specific disorder. Approaches may include:
* Enzyme replacement therapy, such as imiglucerase for Gaucher's disease.
* Substrate reduction therapy, which aims to decrease the production of toxic metabolites.
* Supportive care to manage symptoms and prevent complications.
== Prognosis ==
The prognosis for individuals with inborn errors of lipid metabolism depends on the specific disorder and the availability of effective treatments. Early diagnosis and intervention can improve outcomes and quality of life for affected individuals.
== See also ==
* [[Metabolic disorder]]
* [[Metabolic disorder]]
* [[Lipid metabolism]]
* [[Genetic disorder]]
* [[Genetic disorder]]
* [[Lipid metabolism]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Metabolic disorders]]
[[Category:Metabolic disorders]]
{{medicine-stub}}

Latest revision as of 22:54, 8 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Inborn error of lipid metabolism
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Hyperlipidemia, lipid storage disorder
Complications Atherosclerosis, pancreatitis
Onset Varies by specific condition
Duration Chronic
Types N/A
Causes Genetic mutations affecting lipid metabolism
Risks Family history, genetic predisposition
Diagnosis Blood test, genetic testing
Differential diagnosis Hyperlipoproteinemia, Gaucher's disease, Niemann-Pick disease
Prevention Genetic counseling
Treatment Dietary management, medication
Medication Statins, fibrates, bile acid sequestrants
Prognosis Varies by specific condition
Frequency Rare
Deaths N/A


An inborn error of lipid metabolism refers to a group of genetic disorders that affect the body's ability to metabolize lipids, which are essential components of cell membranes and serve as energy sources. These disorders are typically caused by mutations in genes that encode enzymes or proteins involved in lipid metabolism.

Pathophysiology[edit]

Lipid metabolism involves the breakdown, synthesis, and transport of lipids within the body. Inborn errors of lipid metabolism can lead to the accumulation or deficiency of specific lipids, resulting in a variety of clinical manifestations. These disorders can affect multiple organ systems, including the nervous system, liver, and cardiovascular system.

Types of Inborn Errors[edit]

There are several types of inborn errors of lipid metabolism, each associated with specific enzyme deficiencies or transport defects. Some of the most well-known include:

  • Gaucher's disease: Caused by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside.
  • Niemann-Pick disease: Characterized by the accumulation of sphingomyelin due to a deficiency in sphingomyelinase.
  • Fabry disease: Results from a deficiency in alpha-galactosidase A, causing the accumulation of globotriaosylceramide.
  • Tay-Sachs disease: Caused by a deficiency in hexosaminidase A, leading to the accumulation of GM2 ganglioside.

Clinical Manifestations[edit]

The clinical presentation of inborn errors of lipid metabolism can vary widely depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms may include:

  • Neurological deficits, such as developmental delay, seizures, and neuropathy.
  • Hepatosplenomegaly, or enlargement of the liver and spleen.
  • Cardiovascular complications, including heart disease and stroke.
  • Skin abnormalities, such as angiokeratomas in Fabry disease.

Diagnosis[edit]

Diagnosis of inborn errors of lipid metabolism typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Enzyme assays can be used to measure the activity of specific enzymes in blood or tissue samples. Genetic testing can identify mutations in the genes associated with these disorders.

Treatment[edit]

Treatment options for inborn errors of lipid metabolism vary depending on the specific disorder. Approaches may include:

  • Enzyme replacement therapy, such as imiglucerase for Gaucher's disease.
  • Substrate reduction therapy, which aims to decrease the production of toxic metabolites.
  • Supportive care to manage symptoms and prevent complications.

Prognosis[edit]

The prognosis for individuals with inborn errors of lipid metabolism depends on the specific disorder and the availability of effective treatments. Early diagnosis and intervention can improve outcomes and quality of life for affected individuals.

See also[edit]

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