Find Information About:

Drugs & Supplements

Get information and reviews on prescription drugs, over-the-counter medications, vitamins, and supplements. Search by name or medical condition.

Pill Identifier

Pill Identifier

Having trouble identifying your pills?

Enter the shape, color, or imprint of your prescription or OTC drug. Our pill identification tool will display pictures that you can compare to your pill.

Get Started

My Medicine

Save your medicine, check interactions, sign up for FDA alerts, create family profiles and more.

Get Started

WebMD Health Experts and Community

Talk to health experts and other people like you in WebMD's Communities. It's a safe forum where you can create or participate in support groups and discussions about health topics that interest you.

  • Second Opinion

    Second Opinion

    Read expert perspectives on popular health topics.

  • Community


    Connect with people like you, and get expert guidance on living a healthy life.

Got a health question? Get answers provided by leading organizations, doctors, and experts.

Get Answers

Sign up to receive WebMD's award-winning content delivered to your inbox.

Sign Up

Font Size

Inherited Metabolic Disorders

Symptoms of Inherited Metabolic Disorders

The symptoms of genetic metabolic disorders vary widely depending on the metabolism problem present. Some symptoms of inherited metabolic disorders include:

The symptoms may come on suddenly or progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms appear within a few weeks after birth in many conditions. Other inherited metabolic disorders may take years for symptoms to develop.

Diagnosis of Inherited Metabolic Disorders

Inherited metabolic disorders are present at birth, and some are detected by routine screening. All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia. However, no state tests babies for all known inherited metabolic disorders.

Improved testing technology is leading many states to expand newborn screening for genetic metabolic disorders. The National Newborn Screening and Genetics Resources Center provides information on each state's screening practices.

If an inherited metabolic disorder is not detected at birth, it is often not diagnosed until symptoms appear. Once symptoms develop, specific blood or DNA tests are available to diagnose most genetic metabolic disorders. Referral to a specialized center (usually at a university) increases the chances of a correct diagnosis.

Treatment of Inherited Metabolic Disorders

Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition can't be corrected with current technology. Instead, treatments try to work around the problem with metabolism.

Treatments for genetic metabolic disorders follow a few general principles:

  • Reduce or eliminate intake of any food or drug that can't be metabolized properly.
  • Replace the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible.
  • Remove toxic products of metabolism that accumulate due to the metabolic disorder.

Treatment may include such measures as:

  • Special diets that eliminate certain nutrients
  • Taking enzyme replacements, or other supplements that support metabolism
  • Treating the blood with chemicals to detoxify dangerous metabolic by-products

Hot Topics

WebMD Video: Now Playing

Click here to wach video: Dirty Truth About Hand Washing

Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

Click here to watch video: Dirty Truth About Hand Washing

Popular Slideshows & Tools on WebMD

disciplining a boy
Types, symptoms, causes.
Remember your finger
Are You Getting More Forgetful?
fruit drinks
Eat these to think better.
No gym workout
Moves to help control blood sugar.
acupuncture needle on shoulder
10 tips to look and feel good.
Close up of eye
12 reasons you're distracted.
birth control pills
Which kind is right for you?
embarrassed woman
Do you feel guilty after eating?
Epinephrine Injection using Auto-Injector Syringe
Life-threatening triggers.
woman biting a big ice cube
Habits that wreck your teeth.
pacemaker next to xray
Treatment options.
caregiver with parent
10 tips for daily life.

Pollen counts, treatment tips, and more.

It's nothing to sneeze at.

Loading ...

Sending your email...

This feature is temporarily unavailable. Please try again later.


Now check your email account on your mobile phone to download your new app.

Women's Health Newsletter

Find out what women really need.