What are paediatric genetic and metabolic diseases?

Paediatric genetic and metabolic diseases are conditions caused by inherited defects that affect the body’s metabolism. Usually, these genetic defects are inherited from both parents and they can also be referred to as inborn errors of metabolism.

The term metabolism refers to all of the essential chemical reactions that happen within our bodies that help us to survive. These reactions are part of the day-to-day functioning of a huge number of systems within the body, such as energy production. Special enzymes within the stomach break down food to be converted in to instant fuel or to be stored for later, for example. The body’s metabolism is also responsible for breaking down and eliminating substances the body no longer needs and additionally for creating substances it is lacking.

What causes paediatric genetic and metabolic diseases?

Metabolic disorders occur when some of these chemical processes don’t function effectively. This typically happens because a genetic defect causes a certain hormone or enzyme to be deficient and consequently the necessary chemical reaction cannot take place. As the metabolism has a role in each of the body’s systems, genetic metabolic disorders can seriously affect a child’s development, in particular organ growth and function.

What are the different types of paediatric genetic and metabolic diseases?

There are hundreds of different inherited metabolic diseases which are caused by a range of genetic defects. These conditions are usually categorised according to the affected substance within the body and the condition’s impact upon it. The consequences relate to either an excessive build-up of the substance as it cannot be broken down, an insufficient quantity due to problems with its production or a complete lack of the substance’s presence. Some examples of inherited metabolic diseases include:

• Familial hypercholesterolemia
• Hunter syndrome
• Krabbe disease
• Metachromic leukodystophy
• Porphyria
• Tay-Sachs disease

How are genetic and metabolic diseases diagnosed in children?

As genetic metabolic diseases can seriously affect a child’s development, symptoms caused by interruptions or failings in the body’s usual functioning are often picked up in childhood. Some metabolic disorders can be diagnosed through routine screenings done at birth.

How are genetic and metabolic diseases treated in children?

As there are many types of genetic metabolic diseases which vary in severity, the necessary treatment also differs between variations of this type of condition. Some patients require only dietary restrictions, whereas in more serious cases, liver function may be seriously compromised and so a transplant may be necessary.

Chemical imbalances caused by genetic metabolic disorders can, in the most serious cases, cause permanent disability or death if left untreated. Depending on the specifics of the inherited metabolic disorders in each individual patient, specialists will develop an optimal treatment plan.

Is there a cure for genetic and metabolic diseases?

As children inherit the genetic defects that cause metabolic disorders, there is no way to prevent or cure this type of disease. Screening at birth and genetic testing in children experiencing symptoms can facilitate prompt diagnosis and treatment which vastly improves patient outcomes.

Research looking into genetic defects and their effects on the body is active and advances in this area are improving the outlook for those diagnosed with this type of condition.

What type of doctor treats paediatric genetic and metabolic diseases?

Doctors who are specialist in genetics, endocrinologists and paediatricians treat paediatric genetic metabolic diseases.