Metabolic Genetics

What are Metabolic Disorders?

Metabolics is shorthand for the medical specialty involved in syndromes associated with the body’s metabolism. Our metabolism performs the required chemical reactions taking place in our bodies to break down food and convert it to proteins and other molecules. Several metabolic disorders are inherited and caused by genetic variants that inhibit the body’s natural metabolism.

How Can Clover Genetics Help?

  • Discuss the details of the genetic diagnosis

  • Connect patients with clinical trials and provide care options

  • Evaluate family members for recurrence risk and carrier status

 
 

What are some Genetic Metabolic Disorders?

Some examples of inherited metabolic disorders are:

  • Fabry Disease

  • Familial hypercholesterolemia

  • Hunter syndrome

  • Tay-Sachs disease

  • Phenylketonuria (PKU)

  • Niemann-Pick

  • Ornithine Transcarbamylase (OTC) Deficiency

  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)