HMG-CoA lyase deficiency


What are the first steps after an initial diagnosis of HMG-CoA lyase deficiency?

After a diagnosis of HMG-CoA lyase deficiency, it is important to work with a metabolic doctor and a dietician in addition to your primary care doctor. Timely treatment is important to prevent metabolic crises and the additional symptoms that follow. The first step in treatment is to avoid long periods without eating (fasting), which will help prevent a metabolic crisis. Additionally, adoption of a low-leucine diet, which often includes medical foods and formula, is important to prevent a dangerous build-up of the amino acid leucine.

  • Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; Accessed 19JAN2019
  • "3-Hydroxy-3-Methylglutaric Aciduria." Orphanet: About Orphan Drugs, August 2014; [link url= ""] [/link] Accessed 19JAN2019
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Is there a treatment for HMG-CoA lyase deficiency?

Is there a treatment for HMG-CoA lyase deficiency?

Treatment of HMG-CoA lyase deficiency is often needed throughout life. Not all treatments are right for all patients. Make sure to consult with your physician before beginning, stopping, or changing any treatments.

Treatment usually consists of:

1. Avoiding going a long time without food (fasting)

Infants and young children with HMG-CoA lyase deficiency need to eat frequently to prevent a metabolic crisis. A metabolic specialist will determine how often a child needs to be fed. In general, it is often suggested that infants be fed every four to six hours. However, some babies need to eat even more frequently. It is important that infants be fed during the night, and they may need to be woken up to eat if they do not wake up on their own. A metabolic specialist and dietician will help develop an appropriate feeding plan. Your doctor should also provide a 'sick day' plan, tailored to each patient's specific needs, follow during illnesses or other times when a patient will not or cannot eat. Over time, the frequency of feedings will likely change. Your medical care team will continue to adjust the feeding schedule over time.

2. Sticking to a low-leucine diet

A diet low in leucine and limited amounts of fat and protein is often recommended. Most food in the diet will be carbohydrates (bread, cereal, pasta, fruit, vegetables, etc.). Carbohydrates give the body many types of sugar that can be used as energy. Eating a diet high in carbohydrates and low in protein and fat can help prevent low blood sugar (hypoglycemia) and metabolic crises.

Foods high in protein and fat that patients may need to avoid or limit:

  • milk and dairy products
  • meat and poultry
  • fish
  • eggs
  • dried beans and legumes
  • nuts and peanut butter
  • butter, margarine, oil, lard, and foods made with these fats

Many vegetables and fruits have only small amounts of protein and fat and can be eaten in carefully measured amounts. While protein and fats should be limited, they should not be completely eliminated from the diet. Certain amounts of each are needed for the body to grow and develop properly. A dietician will create a food plan that contains the right amount of protein, fat, nutrients, and energy. An affected patient may need to be on this special food plan for their whole life.

Medical foods and formula

There are medical foods such as special low-protein flours, pastas, and rice that are made especially for people with organic acid disorders, such as HMG-CoA lyase deficiency. A dietician can advise how to use these foods as part of your the diet.

Some patients are also given a special leucine-free medical formula. A metabolic doctor and dietician can help decide whether an individual needs this formula. Some states offer help with payment, or require private insurance to pay for the formula and other special medical foods.

3. Medications

Some patients benefit by taking a supplement called L-carnitine. L-carnitine helps the body to make energy and get rid of harmful wastes. A doctor will decide whether or not L-carnitine is appropriate. Unless advised otherwise, L-carnitine should only be used as prescribed by a doctor. Always ask your doctor before starting any medication.

Children with symptoms of a metabolic crisis need medical treatment right away and often need to be treated in the hospital. During a metabolic crisis, children may be given glucose, bicarbonate, and other medications by IV to treat hypoglycemia and other symptoms of a metabolic crisis. A metabolic doctor can provide a special letter with specific medical instructions in case of a metabolic crisis.

4. Monitoring for signs of illness

In some people with HMG-CoA lyase deficiency, even minor illnesses such as a cold or the flu can lead to a metabolic crisis. In order to prevent problems, call your doctor right away if you experience any of the following:

  • loss of appetite
  • vomiting
  • diarrhea
  • fever
  • infection
  • "3-Hydroxy-3-Methylglutaric Aciduria." Orphanet: About Orphan Drugs, August 2014; [link url= ""] [/link] Accessed 19JAN2019
  • Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; Accessed 19JAN2019

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