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  3. 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

(3 • hie-DRAHK-see • 3 • meth-uhl-GLOO-tuh-ruhl • koh-AY • LIE-ace • di-FISH-uhn-see)

General Condition Information

Other Names

  • 3 hydroxy 3 methylglutaryl CoA lyase deficiency
  • 3 hydroxy 3 methylglutaryl-CoA lyase deficiency
  • 3-hydroxy 3-methyglutaric aciduria
  • 3-hydroxy-3-methyglutaric aciduria
  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaric aciduria (3-hydrox 3-methylglutaryl-CoA lyase)
  • 3-hydroxy-3-methylglutaryl CoA lyase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA (HMG CoA) lyase deficiency
  • 3-hydroxy-3-methylglutaryl-CoA lyase aciduria
  • 3-hydroxy-3-methylglutaryl-CoA reductase deficiency
  • 3-methyl-3-OH-glutaryl coA lyase deficiency
  • 3-OH 3-CH glutaric aciduria
  • 3-OH 3-CH3 glutaric aciduria
  • Hydroxy 3 methylglutaric-CoA lyase
  • Hydroxymethylglutaric aciduria
  • Hydroxymethylglutaric aciduria, HMG-CoA lyase deficiency, or 3-OH 3-CH3 glutaric aciduria
  • Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency
  • Methylglutaric aciduria

Condition Type

Birth Prevalence

  • The number of babies born each year with this very rare condition is currently unknown.
  • Most people with this condition are from Saudi Arabia, Portugal, or Spain

Screening Finding

Elevated C5-OH acylcarnitine

What is 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an inherited (genetic) condition that prevents the body from breaking down certain proteins and fats.

“HMG-CoA lyase” is the name of an enzyme in your body that helps you digest a part of some proteins called leucine. This enzyme breaks leucine into smaller pieces that your body can either use or remove. It also helps you break down fats into ketones, which your body uses to store energy.

If your baby’s HMG-CoA lyase enzyme does not work well, their body has trouble breaking down leucine and making energy. Waste (including toxins) can build up, and parts of your baby’s body might not make enough energy to work properly. Both of these things can damage your baby’s body.

If untreated, this damage leads to the signs and symptoms of the condition. In severe cases, this condition can result in coma or death unless treated early.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Frequent feedings to avoid long periods without food
  • Following strict emergency guidelines when sick
  • L-carnitine supplements
  • Special diet in some cases

Children who receive early and ongoing treatment for HMG-CoA lyase deficiency can have healthy growth and development.

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