Methylmalonic acidemia with homocystinuria type cblC

What is methylmalonic acidemia with homocystinuria cblC type?

Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.

Last updated on 05-01-20

What is the life expectancy of people with methylmalonic acidemia with homocystinuria cblC type?

The effects of methylmalonic acidemia with homocystinuria (MMA+HCU) cblC type vary from mild to life-threatening. As a result, life expectancy can vary greatly among people with this condition. Your child's doctors are best suited to counsel you regarding the severity of your child's condition and overall prognosis. People with MMA+HCU are at risk for serious health complications, particularly if their body becomes over-stressed by illness or other physical stress. While we are not aware of life expectancy statistics specifically for MMA+HCU cblC, we have developed a Q&A on life-expectancy for methylmalonic acidemia in general, which you may find helpful. You can view this Q&A at the following link:
http://rarediseases.info.nih.gov/gard/7033/methylmalonic- acidemia/case/35540/case-questions

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: Organic Acidemia Association 9040 Duluth Street
Golden Valley, MN, 55427, United States
Phone: 763-559-1797 Fax : 866-539-4060 Email: mkstagni@gmail.com Url: http://www.oaanews.org/
Name: HCU Network America 623 Creek Lane
Flourtown, PA, 19031, United States
Phone: 630-360-2087 Email: info@hcunetworkamerica.org Url: http://hcunetworkamerica.org/

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