Genetics & Metabolism - Pediatric

• Birth defects
• Chromosomal disorders
• Ciliopathies
• Connective tissue disorders
• Genetic cardiovascular disorders
• Inborn errors of metabolism
• Marfan syndrome
• Neurofibromatosis
• Neurogenetic disorders, including Williams syndrome
• Noonan syndrome
• Skeletal dysplasia

You’re probably familiar with genes, but you may have less of an understanding of metabolites. A metabolite is a molecule that plays a part in metabolism, which is the process your body uses to pull energy out of the foods you eat. This is a complicated process involving breaking down foods into sugars and acids, which fuel the body.

A metabolic disorder occurs when that process is disrupted. Some metabolic disorders are genetic, while others develop as the result of another medical condition, such as diabetes. Pediatric metabolic diseases are often genetic.

There are two basic types of pediatric metabolic diseases — those that cause an inability to break down a substance during digestion and those that cause an inability to produce some type of essential substance.

Some metabolic disorders can be diagnosed through prenatal screenings such
as amniocentesis, but many disorders are detected during routine newborn screenings. Our expert team of providers diagnose metabolic disorders such as pediatric metabolic acidosis and work alongside families to provide treatment options and care.

While metabolic disorders represent one type of genetic disorder, there are many other genetic conditions that affect children. Genetic mutations are inherited from one or both parents and disrupt the way that a gene functions.

There are three types of genetic disorders — single-gene disorders, chromosomal disorders and complex disorders, which disrupt multiple genes.

If your child exhibits symptoms that may be related to a genetic disorder, genetic testing can be used to identify the mutation and confirm a diagnosis. Genetic testing involves microscopically examining the genetic makeup found in tissue or blood samples, with blood samples being most common.

When genetic testing is needed or recommended, our team of medical providers will help your child and your family through the required steps. In most cases, the process to obtain the sample required for testing can be done quickly. Once the testing is performed and a diagnosis is confirmed, we will work with your family to decide on a treatment regimen.

Our genes and metabolism are involved in processes throughout the body. If your child is dealing with symptoms that may be related to a genetic mutation of some sort, you logically want answers and a path forward.

At Kentucky Children’s Hospital, we’re dedicated to helping families find those answers. Our multidisciplinary team of physicians, nurses, therapeutic dietitians, lab specialists and genetic counselors will work alongside your family to diagnose and treat both genetic and metabolic disorders, including birth defects, chromosome problems, biochemical disorders and many conditions that have a genetic cause or genetic-molecular component.

We’ll walk beside you every step of the way, providing expertise and compassionate care.