Lipid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.

Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.

These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.

Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.

Symptoms of Lipid Metabolism Disorders

The following features are indicative of Lipid Metabolism Disorders:
  • bone pain and fractures
  • cognitive impairment
  • easy bruising
  • enlarged spleen
  • enlarged liver
  • fatigue
  • heart valve problems
  • lung disease
  • seizures
  • severe swelling at birth
  • skin changes
  • child's body loses function
  • blindness
  • deafness
  • paralysis

Get TabletWise Pro

Thousands of Classes to Help You Become a Better You.

Common Causes of Lipid Metabolism Disorders

The following are the most common causes of Lipid Metabolism Disorders:
  • genetic mutation
  • deficiency in the enzyme hexosaminidase A

Risk Factors for Lipid Metabolism Disorders

The following factors may increase the likelihood of Lipid Metabolism Disorders:
  • Eastern or Central European Jewish people
  • family history
  • ancestors come from Eastern and Central European Jewish communities
  • ancestors come from certain French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania and from the Cajun community of Louisiana

Prevention of Lipid Metabolism Disorders

No, it is not possible to prevent Lipid Metabolism Disorders.
  • genetic factors

Occurrence of Lipid Metabolism Disorders

Number of Cases

The following are the number of Lipid Metabolism Disorders cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Lipid Metabolism Disorders can occur at any age.

Common Gender

Lipid Metabolism Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Lipid Metabolism Disorders

The following lab tests and procedures are used to detect Lipid Metabolism Disorders:
  • Blood tests: To measure the levels of the enzyme related with Gaucher's disease
  • Dual energy X-ray absorptiometry (DXA): To measure the bone density
  • Magnetic resonance imaging (MRI): To check whether the liver or spleen is enlarged
  • Physical exam: To see a cherry-red spot in the back of the child's eyes

Doctor for Diagnosis of Lipid Metabolism Disorders

Patients should visit the following specialists if they have symptoms of Lipid Metabolism Disorders:
  • Geneticist
  • Hematologist
  • Primary care doctor
  • Pediatrician

Complications of Lipid Metabolism Disorders if untreated

Yes, Lipid Metabolism Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Lipid Metabolism Disorders is left untreated:
  • growth delays in children
  • obstetric and gynecological problems
  • cancer
  • Parkinson's disease
  • seizures
  • difficulty in swallowing
  • progressive hearing loss
  • confusion
  • disorientation
  • continued loss of vision
  • respiratory failure

Procedures for Treatment of Lipid Metabolism Disorders

The following procedures are used to treat Lipid Metabolism Disorders:
  • Enzyme replacement therapy: Replaces the deficient enzyme with artificial ones
  • Bone marrow transplant: Remove the blood-forming cells that have been damaged by Gaucher disease
  • Spleen removal: Treats the Gaucher disease

Self-care for Lipid Metabolism Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Lipid Metabolism Disorders:
  • Keep hydrated and consume nutritious food: Use proper nutrition and hydration to keep the airway open

Patient Support for Treatment of Lipid Metabolism Disorders

The following actions may help Lipid Metabolism Disorders patients:
  • Genetic counseling: Beneficial for affected individuals and their families in coping with the disease
  • Family support: Helps in coping with your child's need
  • Follow-up care and coordination: Follow treatment and support plan as recommended by doctor

Time for Treatment of Lipid Metabolism Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Lipid Metabolism Disorders to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Lipid Metabolism Disorders.
Amino Acid Metabolism Disorders
Carbohydrate Metabolism Disorders
Dietary Fats
Metabolic Disorders

Sign Up


Share with friends, get 20% off
Invite your friends to TabletWise learning marketplace. For each purchase they make, you get 20% off (upto $10) on your next purchase.