Neutral lipid storage disease
Genetic disorder characterized by the accumulation of neutral lipids in various tissues
| Neutral lipid storage disease | |
|---|---|
| [[File:|250px|alt=|]] | |
| Synonyms | |
| Pronounce | N/A |
| Field | N/A |
| Symptoms | Muscle weakness, hepatomegaly, cardiomyopathy |
| Complications | N/A |
| Onset | Childhood or adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations |
| Risks | Family history |
| Diagnosis | Genetic testing, Biopsy |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Symptomatic management |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Neutral lipid storage disease (NLSD) is a rare genetic disorder characterized by the accumulation of neutral lipids in various tissues of the body. This condition can affect multiple organs, including the muscle, liver, and heart.
Classification
NLSD is classified into two main types:
- Neutral lipid storage disease with myopathy (NLSDM), also known as Chanarin-Dorfman syndrome.
- Neutral lipid storage disease with ichthyosis (NLSDI).
Signs and Symptoms
The symptoms of NLSD can vary widely depending on the type and severity of the disease. Common symptoms include:
- Muscle weakness
- Hepatomegaly (enlarged liver)
- Cardiomyopathy (heart muscle disease)
- Ichthyosis (dry, scaly skin) in NLSDI
Genetics
NLSD is caused by mutations in specific genes responsible for lipid metabolism. The most commonly affected genes are:
- ABHD5 (also known as CGI-58) in NLSDI
- PNPLA2 (also known as ATGL) in NLSDM
These mutations lead to the improper breakdown and storage of neutral lipids within cells.
Diagnosis
Diagnosis of NLSD typically involves:
- Genetic testing to identify mutations in the ABHD5 or PNPLA2 genes.
- Biopsy of affected tissues to observe lipid accumulation.
Treatment
There is currently no cure for NLSD. Treatment focuses on managing symptoms and may include:
- Physical therapy for muscle weakness
- Medications for heart and liver complications
- Skin care for ichthyosis
Prognosis
The prognosis for individuals with NLSD varies. Some may experience mild symptoms, while others may have severe complications affecting their quality of life.
Related Pages
Categories
This article is a genetic disorder stub. You can help WikiMD by expanding it!
Transform your life with W8MD's budget GLP-1 injections from $125.
W8MD offers a medical weight loss program to lose weight in Philadelphia. Our physician-supervised medical weight loss provides:
- Most insurances accepted or discounted self-pay rates. We will obtain insurance prior authorizations if needed.
- Generic GLP1 weight loss injections from $125 for the starting dose.
- Also offer prescription weight loss medications including Phentermine, Qsymia, Diethylpropion, Contrave etc.
NYC weight loss doctor appointments
Start your NYC weight loss journey today at our NYC medical weight loss and Philadelphia medical weight loss clinics.
- Call 718-946-5500 to lose weight in NYC or for medical weight loss in Philadelphia 215-676-2334.
- Tags:NYC medical weight loss, Philadelphia lose weight Zepbound NYC, Budget GLP1 weight loss injections, Wegovy Philadelphia, Wegovy NYC, Philadelphia medical weight loss, Brookly weight loss and Wegovy NYC
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
