Lipidosis with Triglycerid Storage Disease Overview

Save information for later
Sign Up

Learn About Lipidosis with Triglycerid Storage Disease

What is the definition of Lipidosis with Triglycerid Storage Disease?
Lipidosis with triglyceride storage disease, also known as neural lipid storage disease (NLSD), is a rare inherited (genetic) disease in which the body does not process triglyceride blood lipids (fats) properly due to a missing enzyme, thus allowing triglycerides to accumulate in the cells throughout the body. There are two subtypes of lipidosis with triglyceride storage disease: 1) Wolman’s disease and 2) cholesteryl ester storage disease.
What are the symptoms of Lipidosis with Triglycerid Storage Disease?
Symptoms of lipidosis with triglyceride storage disease depend on the type. Symptoms of lipidosis with triglyceride storage disease in infants with Wolman’s disease may include progressive mental deterioration; enlarged liver and spleen; gastrointestinal problems; vomiting; swollen abdomen; anemia; yellowing of the skin, mucous membranes, and whites of eyes (jaundice); and calcium deposits in the adrenal glands. Symptoms of lipidosis with triglyceride storage disease in infants and adults with cholesteryl ester storage disease may include yellowing of the skin, mucous membranes, and whites of eyes (jaundice); enlarged liver; cirrhosis; chronic liver failure; and calcium deposits in the adrenal glands.
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Lipidosis with Triglycerid Storage Disease?
There is currently no treatment for lipidosis with triglyceride storage disease.
Who are the top Lipidosis with Triglycerid Storage Disease Local Doctors?
Experienced in Lipidosis with Triglycerid Storage Disease
Dr. Gilberto A. Martinez
Family Medicine
Experienced in Lipidosis with Triglycerid Storage Disease
Dr. Gilberto A. Martinez
Family Medicine
6600 Mercy Ct, Suite 100, 
Fair Oaks, CA 
 (11.7 mi)
916-967-7285
Experience:
36+ years
Languages Spoken:
English, Spanish
Offers Telehealth

Gilberto Martinez is a Family Medicine provider in Fair Oaks, California. Dr. Martinez has been practicing medicine for over 36 years and is rated as an Experienced provider by MediFind in the treatment of Lipidosis with Triglycerid Storage Disease. His top areas of expertise are Prolidase Deficiency, Cerebrotendinous Xanthomatosis, Cholesteryl Ester Storage Disease, and Wolman Disease.

Distinguished in Lipidosis with Triglycerid Storage Disease
Dr. Eveline O. Stock
Cardiology
Distinguished in Lipidosis with Triglycerid Storage Disease
Dr. Eveline O. Stock
Cardiology

Ucsf Medical Group Business Services

400 Parnassus Ave, 
San Francisco, CA 
 (76.8 mi)
415-476-1000
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Eveline Stock is a Cardiologist in San Francisco, California. Dr. Stock and is rated as a Distinguished provider by MediFind in the treatment of Lipidosis with Triglycerid Storage Disease. Her top areas of expertise are Lipidosis with Triglycerid Storage Disease, Homozygous Familial Hypercholesterolemia (HoFH), Heart Murmurs, and Coronary Heart Disease.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Lipidosis with Triglycerid Storage Disease
Dr. Mark L. Tong
Family Medicine
Experienced in Lipidosis with Triglycerid Storage Disease
Dr. Mark L. Tong
Family Medicine
1000 Fowler Way, Suite 1a, 
Placerville, CA 
 (39.2 mi)
530-344-9200
Languages Spoken:
English

Mark Tong is a Family Medicine provider in Placerville, California. Dr. Tong and is rated as an Experienced provider by MediFind in the treatment of Lipidosis with Triglycerid Storage Disease. His top areas of expertise are Coronary Heart Disease, Cirrhosis, Activated PI3K Delta Syndrome (APDS), and Type 1 Diabetes (T1D).

View All Doctors
What are the latest Lipidosis with Triglycerid Storage Disease Clinical Trials?
Foundation Fighting Blindness My Retina Tracker Registry
Foundation Fighting Blindness My Retina Tracker Registry
Enrollment Status: Recruiting
Publish Date: February 15, 2023

Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...

Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials