Description

Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect the metabolism. Different changes in genes cause different types of inherited metabolic disorders. These changes in the genes are most commonly transmitted from both parents. But sometimes the change in the gene is only one of the parents, most often the mother. These disorders are also called inborn errors of metabolism.

Metabolism is the complex set of chemical reactions that your body uses to maintain life. These include:

  • Make energy. Special enzymes that break down food or certain chemicals so that your body can use immediately for fuel or store them for later use.
  • Make or get rid of the substances. Certain chemical processes that make substances that the body needs. Other chemical processes break down the substances that your body does not need.

When these processes don't work properly, a metabolic disorder that occurs. It may be due to an enzyme that is too low or missing, or another problem. Inherited metabolic disorders are divided into different groups. They are grouped by the substance affected, and if it builds up too much, because it cannot be broken down or is very low or non-existent.

Symptoms

There are hundreds of inherited metabolic disorders caused by different genes. The symptoms depend on the type of disorder and how severe it is.

Examples of inherited metabolic disorders include:

  • Familial hypercholesterolemia.
  • Gaucher disease.
  • Hunter syndrome.
  • Krabbe's disease.
  • Maple syrup urine disease.
  • Mld.
  • Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS).
  • The Niemann-Pick Disease.
  • Phenylketonuria (PKU).
  • Porphyria.
  • Tay-Sachs disease.
  • Wilson's disease.

When to see a doctor

If you have any concerns about your child's growth and development or your own health, talk with your doctor or other health care professional.

Causes

Inherited metabolic disorders are caused by changes in specific genes that affect the metabolism. Different changes in genes cause different types of inherited metabolic disorders. These changes in the genes are most commonly transmitted from both parents. But sometimes the change in the gene is only one of the parents, most often the mother. There are hundreds of inherited metabolic disorders caused by different genes.

Risk factors

The risk of an inherited metabolic disorder is greater if one or both parents have the gene change that can cause the disease. In some cases, prospective parents can choose to have carrier testing before pregnancy. This test can identify certain changes in the genes of the parents that may increase the risk that the future of the children who have certain types of inherited metabolic disorders.

Diagnosis

Some inherited metabolic disorders may be diagnosed before birth. Others may be diagnosed by routine newborn screening tests done at birth. Others are identified only after an adult or a child shows symptoms of a disorder.

To find out if you or your child has an inherited metabolic disorder, you may have:

  • Physical exam. You may have a physical exam and talk about you or your child's symptoms and medical history. You can also ask about any history of the family.
  • Tests. Blood and urine tests, to see how the metabolism is working. Sometimes other types of tests may be recommended.
  • The genetic testing.Genetic testing can identify the type of inherited metabolic disorder you or your child has it. If a person in the family has an inherited metabolic disorder, specialists often recommend genetic counseling and testing for other family members. In some cases, parents may choose to have carrier testing before pregnancy, also called the preconception screening. This test can identify certain changes in the genes of the parents that may increase the risk that the future of the children who have certain types of inherited metabolic disorders.
  • Genetic counseling. Genetic counseling can include the discussion of the assessment of the newborn or other genetic testing. Counseling may also include information about the risk of an inherited metabolic disorder for the future of the children.
  • Specialist exam. Certain inherited metabolic disorders can increase the risk of other conditions, such as heart problems, vision or hearing. You may be referred to other specialists when necessary.

The genetic testing. Genetic testing can identify the type of inherited metabolic disorder you or your child has it. If a person in the family has an inherited metabolic disorder, specialists often recommend genetic counseling and testing for other family members.

In some cases, parents may choose to have carrier testing before pregnancy, also called the preconception screening. This test can identify certain changes in the genes of the parents that may increase the risk that the future of the children who have certain types of inherited metabolic disorders.

Treatment

The treatment depends on the type of inherited metabolic disorder and how severe it is. Because there are many types of inherited metabolic disorders, the treatment can vary greatly. Some examples of treatments that include special diets, enzyme replacement, vitamin therapy, medications, and liver transplants. Sometimes, the care begins with a stay in the hospital. For some types of inherited metabolic disorders, there are no treatments currently available.

Inherited metabolic disorders are rare and complex. Depending on the type and severity of the disorder and his or the age of your child, you can see several experts in inherited metabolic disorders. These may include specialists in:

  • The medical genetics.
  • Nutrition.
  • Pediatrics and development of pediatrics.
  • Of the nervous system.
  • Endocrine and metabolic disorders.
  • Heart and blood vessels.
  • Ear, nose and throat (ENT).
  • The eyes and vision.
  • The digestive system.
  • Kidneys.

Long life, careful with the regular health care visits, it is important to take care of problems early and adjust the treatment as needed.

Symptoms and treatment of Inherited metabolic disorders