Sandhoff
Sandhoff disease is a rare, genetic, metabolic disorder characterized by the absence of certain enzymes needed for the breakdown of fats in the body. It is a type of lysosomal storage disease and is also classified as a sphingolipidosis because it affects the metabolism of sphingolipids. Sandhoff disease is named after the German neurologist Konrad Sandhoff, who first described the condition in 1963.
Symptoms[edit | edit source]
The symptoms of Sandhoff disease typically begin in infancy and may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), and frequent respiratory infections. There is currently no specific treatment for Sandhoff disease. Management of the disease is symptomatic and supportive.
Causes[edit | edit source]
Sandhoff disease is caused by mutations in the HEXA and HEXB genes. These genes provide instructions for making the beta subunits of the enzymes beta-hexosaminidase A and beta-hexosaminidase B. Mutations in these genes disrupt the activity of these enzymes, preventing the breakdown of certain fats and leading to their accumulation in cells and tissues.
Diagnosis[edit | edit source]
Diagnosis of Sandhoff disease is based on the clinical symptoms, biochemical studies showing deficient hexosaminidase A and B activity, and molecular genetic testing confirming mutations in the HEXB gene.
Treatment[edit | edit source]
There is currently no cure for Sandhoff disease. Treatment is symptomatic and supportive, and may include physical therapy to manage muscle weakness and stiffness, and medications to manage seizures and other symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with Sandhoff disease is generally poor, with most individuals not surviving past early childhood. However, the course of the disease can vary, and some individuals with less severe forms of the disease may live into adolescence or early adulthood.
See also[edit | edit source]
References[edit | edit source]
| Sandhoff Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
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 Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
