Inherited Metabolic Diseases—Overview

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.

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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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.

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
  • Lumbar puncture —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.

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