Inherited Metabolic Disorders

Diagnosis

Certain inherited metabolic disorders can be identified during prenatal testing, while others may be diagnosed through routine newborn screening tests conducted shortly after birth. Alternatively, some disorders only become apparent when a child or adult exhibits symptoms.

To determine whether you or your child has an inherited metabolic disorder, you may undergo:

• Physical assessment: A thorough physical examination will be conducted, encompassing discussions about your or your child’s symptoms, along with a review of medical history. Family history may also be explored.
• Diagnostic tests: Blood and urine tests are employed to assess the functionality of metabolism. Additional tests may be recommended depending on the situation.
• Genetic testing: Genetic testing is capable of identifying the specific inherited metabolic disorder affecting you or your child. If a family member has such a disorder, specialists often recommend genetic testing and counseling for other relatives. For prospective parents, preconception screening or carrier testing may be chosen before pregnancy. This test can pinpoint certain gene changes in parents, heightening the awareness of potential risks for specific inherited metabolic disorders.
• Specialist examinations: Some inherited metabolic disorders may elevate the risk of associated conditions like heart, vision, or hearing problems. Referral to specialists may be suggested accordingly.
• Genetic counseling: Genetic counseling involves discussions about newborn screening and other genetic tests. It also provides information on the likelihood of an inherited metabolic disorder affecting future children.

Treatment

The course of treatment is contingent upon the specific type and severity of the inherited metabolic disorder. Given the diversity of these disorders, treatment approaches can vary significantly.

Examples of treatments encompass special diets, enzyme replacement, vitamin therapy, medications, and, in certain cases, liver transplants. Hospitalization may be necessary as the initial step in care. However, for some types of inherited metabolic disorders, no specific treatments are currently available.

Due to their rarity and complexity, inherited metabolic disorders may require consultation with various experts based on the type, severity, and the age of the affected individual. This may involve specialists in:

• Nutrition.
• Nervous system.
• Endocrine and metabolic disorders.
• Medical genetics.
• Pediatrics and developmental pediatrics.
• Ear, nose and throat (ENT).
• Eyes and vision.
• Cardiovascular system.
• Gastrointestinal system.
• Renal system.

Continuous and lifelong care, involving regular doctor visits, is crucial for addressing issues at an early stage and making necessary adjustments to the treatment as required.