Homocystinuria due to defect in methylation (cbl g)
Homocystinuria due to defect in methylation (cblG) is a rare genetic disorder characterized by the body's inability to properly process certain building blocks of proteins (amino acids). Specifically, this condition affects the metabolism of the amino acid methionine, leading to an accumulation of homocysteine in the blood and urine, a condition known as homocystinuria. The cblG type is caused by mutations in the MMACHC gene, which plays a crucial role in the metabolic pathway that converts vitamin B12 (cobalamin) into its active forms. This defect disrupts the methylation cycle, essential for DNA synthesis and repair, as well as the production of myelin and neurotransmitters.
Symptoms[edit | edit source]
The symptoms of homocystinuria due to cblG defect can vary widely among affected individuals. They may include:
- Developmental delay
- Intellectual disability
- Seizures
- Microcephaly (small head size)
- Megaloblastic anemia (a type of anemia characterized by larger than normal red blood cells)
- Visual problems
- Skeletal abnormalities such as osteoporosis
- Thromboembolism (blood clots)
Diagnosis[edit | edit source]
Diagnosis of homocystinuria due to cblG defect involves a combination of clinical evaluation, family history, and specialized tests. These tests may include:
- Plasma amino acid analysis to measure levels of methionine and homocysteine
- Urine analysis for elevated homocysteine
- Genetic testing to identify mutations in the MMACHC gene
Treatment[edit | edit source]
There is no cure for homocystinuria due to cblG defect, but treatment focuses on managing symptoms and preventing complications. Treatment options may include:
- Vitamin B12 (cobalamin) supplements
- Betaine, a medication that helps reduce homocysteine levels
- A diet low in methionine
- Regular monitoring for complications such as blood clots and eye problems
Prognosis[edit | edit source]
The prognosis for individuals with homocystinuria due to cblG defect varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and treatment can improve the quality of life and reduce the risk of serious complications.
| Homocystinuria due to defect in methylation (cbl g) 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
