Inherited Metabolic Diseases -- Overview

Inherited metabolic diseases are a group of disorders that cause missing or defective enzymes. The enzyme problems can lead to: There are thousands of inherited metabolic diseases.

  • Causes

    These diseases are caused by a problem with the genes that determine how specific enzymes are made. The genes are passed on from parent(s) to child.

    Genetic Material
    Chromosome DNA
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  • Definition

    Inherited metabolic diseases are a group of disorders that cause missing or defective enzymes. The enzyme problems can lead to:

    • A build up of harmful substances that the enzymes would otherwise breakdown
    • An inability to fully breakdown food for use in the cells

    There are thousands of inherited metabolic diseases.

  • Diagnosis

    The doctor will ask about your child's symptoms and medical history. A physical exam will be done. Skin and blood testing may be done to look for the specific enzyme that is causing the problem.

    Other tests may be done to look for any problems that may have developed. Tests may include:

    • Screening tests for vision and hearing
    • Eye exams
    • Neuropsychological testing—measures mental function
    • MRI scan
    • Spinal tap
      —fluid is taken from the spine and examined

    • Tissue
      biopsy
      —a sample of tissues is taken and examined
    • Electromyogram (EMG)—measures electrical impulses in the muscles
    • Other special tests of the heart, liver, and kidneys

    Prenatal testing and newborn screening may help with early detection.

  • Prevention

    There is no way to prevent these kinds of disorders.

  • Risk Factors

    Inherited metabolic disease is more common in families with Ashkenazi Jewish, Finnish, or Dutch heritage. A family history increases the chance of these diseases as well.

  • Symptoms

    Symptoms can be severe and appear shortly after birth. Symptoms can also be mild and detected later in life. Tell your doctor if your child has any of these:

    • Skin rash
    • Recurrent infections or hernias
    • Developmental delays
    • Problems with hearing or sight
    • Problems including pain with bones
    • Problems with heart
    • Seizures

    These symptoms may be caused by other conditions. If your child has any of these, talk to the doctor.

  • Treatment

    Talk with the doctor about the best treatment plan for your child. Treatment will depend on the type of condition your child has. Options may include: