Inherited Metabolic Diseases—Overview

Definition

Inherited metabolic diseases are a group of disorders that result in 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

Most inborn errors of metabolism are found as a result of newborn screening tests. If no screening tests are available or the disease is not detected on screening test, symptoms develop.Symptoms can be severe and appear shortly after birth. Tell your doctor if your infant has any of these:
  • Excessive sleepiness
  • Weak muscles
  • Persistent vomiting
  • Feeding problems
  • Muscle spasms or twitches
  • Developmental delays
  • Seizures
  • Problems with hearing or sight
  • Problems with the liver, including jaundice
  • Problems with the heart or kidney
Symptoms can also be mild and detected later in life. Children 1 year old and over can have additional neurologic symptoms. Tell your doctor if your child has any of these:
  • Trouble with balance
  • Involuntary movements
  • Loss of sensation or mevement
  • Muscle tightening
  • Behavior or psychiatric problems
  • Loss of developmental skills, language, or physical skills
These symptoms may be caused by other conditions. If your child has any of these, talk to the doctor.

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