Overview
Inherited metabolic disorders are a group of medical conditions caused by changes in specific genes that affect metabolism. These gene changes are most commonly passed down from both parents, but sometimes the gene change comes only from one parent, most often from the mother. These disorders are also known as inborn errors of metabolism.
Types of Inherited Metabolic Disorders
- Phenylketonuria (PKU): A rare genetic disorder that affects the body's ability to break down the amino acid phenylalanine.
- Galactosemia: A rare genetic disorder that affects the body's ability to break down galactose, a type of sugar found in milk.
- Cystic Fibrosis: A genetic disorder that affects the body's ability to produce mucus and causes respiratory problems.
- Hemochromatosis: A genetic disorder that affects the body's ability to absorb iron and causes iron buildup in the body.
- Tay-Sachs Disease: A genetic disorder that affects the body's ability to break down fatty substances and causes progressive nerve damage.
Causes of Inherited Metabolic Disorders
Inherited metabolic disorders are caused by changes in specific genes that affect metabolism. These gene changes can be inherited from one or both parents and can be caused by mutations in the DNA.
Risk Factors of Inherited Metabolic Disorders
The risk of developing an inherited metabolic disorder is higher if:
- You have a family history of the disorder.
- You are a carrier of the mutated gene.
- You are born with a mutation in the gene.
Symptoms of Inherited Metabolic Disorders
The symptoms of inherited metabolic disorders can vary depending on the specific disorder and can include:Preventions of Inherited Metabolic Disorders
Prevention is possible for some inherited metabolic disorders by:
- Getting genetic testing to identify carriers of the mutated gene.
- Avoiding foods that contain phenylalanine for individuals with PKU.
- Avoiding galactose-containing foods for individuals with galactosemia.
Diagnosis of Inherited Metabolic Disorders
Diagnosis is typically made through a combination of:
- Physical examination
- Medical history
- Genetic testing
- Laboratory tests
Treatment for Inherited Metabolic Disorders
Treatment for inherited metabolic disorders typically involves managing symptoms and preventing complications. This may include:
- Dietary changes
- Medication
- Physical therapy
- Speech therapy
- Surgery
When to seek medical attention ?
If you experience any symptoms of an inherited metabolic disorder, it is recommended to see a doctor for an evaluation. Early diagnosis and treatment can help prevent complications and improve outcomes.
