The nervous system is essentially the body’s electrical wiring system, made up of the brain and a complex connection of specialized cells called neurons that transmit signals between different parts of the body. They work together to control all of the body’s...
What is fragile X syndrome? Fragile X syndrome is the most common inherited cause of intellectual disability and autism. The gene that causes fragile X syndrome helps in the development of neuronal synapses. Therefore, mutations in this gene lead to delayed...
With the growing awareness of the importance of family history information as well as increasing access to genetic testing, more people are finding out that they may be at risk for a genetic disease. Sometimes, this knowledge comes before that individual is ready to...
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Optiz syndrome (SLO) is an inborn error of cholesterol metabolism that results from the reduced activity or absence of the enzyme 7-dehydrocholesterol reductase. This enzyme controls the last step in the formation of...
Metabolism is the series of chemical reactions that break down food into energy in the body. Inborn errors of metabolism are rare genetic conditions that result in blockages in that pathway, typically due to the lack of or ineffective function of certain enzymes. A...
