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

Types of Inherited Metabolic Disorders

Hundreds of inherited metabolic disorders have been identified, and new ones continue to be discovered. Some of the more common and important genetic metabolic disorders include:

Lysosomal storage disorders : Lysosomes are spaces inside cells that break down waste products of metabolism. Various enzyme deficiencies inside lysosomes can result in buildup of toxic substances, causing metabolic disorders including:

  • Hurler syndrome (abnormal bone structure and developmental delay)
  • Niemann-Pick disease (babies develop liver enlargement, difficulty feeding, and nerve damage)
  • Tay-Sachs disease (progressive weakness in a months-old child, progressing to severe nerve damage; the child usually lives only until age 4 or 5)
  • Gaucher disease (bone pain, enlarged liver, and low platelet counts, often mild, in children or adults)
  • Fabry disease (pain in the extremities in childhood, with kidney and heart disease and strokes in adulthood; only males are affected)
  • Krabbe disease (progressive nerve damage, developmental delay in young children; occasionally adults are affected)

Galactosemia: Impaired breakdown of the sugar galactose leads to jaundice, vomiting, and liver enlargement after breast or formula feeding by a newborn.

Maple syrup urine disease: Deficiency of an enzyme called BCKD causes buildup of amino acids in the body. Nerve damage results, and the urine smells like syrup.

Phenylketonuria (PKU): Deficiency of the enzyme PAH results in high levels of phenylalanine in the blood. Mental retardation results if the condition is not recognized.

Glycogen storage diseases: Problems with sugar storage lead to low blood sugar levels, muscle pain, and weakness.

Mitochondrial disorders: Problems inside mitochondria, the powerhouses of cells, lead to muscle damage.

Friedreich ataxia: Problems related to a protein called frataxin cause nerve damage and often heart problems. Inability to walk usually results by young adulthood.

Peroxisomal disorders: Similar to lysosomes, peroxisomes are tiny spaces filled with enzymes inside cells. Poor enzyme function inside peroxisomes can lead to buildup of toxic products of metabolism. Peroxisomal disorders include:

  • Zellweger syndrome (abnormal facial features, enlarged liver, and nerve damage in infants)
  • Adrenoleukodystrophy (symptoms of nerve damage can develop in childhood or early adulthood depending on the form.)

Metal metabolism disorders: Levels of trace metals in the blood are controlled by special proteins. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body:

  • Wilson disease (toxic copper levels accumulate in the liver, brain, and other organs)
  • Hemochromatosis (the intestines absorb excessive iron, which builds up in the liver, pancreas, joints, and heart, causing damage)

Organic acidemias: methylmalonic acidemia and propionic acidemia.

Urea cycle disorders: ornithine transcarbamylase deficiency and citrullinemia

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.