What is LCHAD?

Short Answer:

LCHAD is a rare metabolic disorder that prevents the body from using fat for energy.  The treatment is a low fat diet and eating often.

Many people have asked me if you outgrow LCHAD or if LCHAD can be cured.  The answer is no on both counts.

LCHAD is an autosomal recessive disorder which means two abnormal genes are passed to you from your parents (1 from each parent) .  You cannot “catch” LCHAD, it is inherited.

Long Answer:

“Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

Problems related to LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.”

Retrieved from http://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency on 5/2/2011

  1. My mother had LCHAD, and she died when she was 32….I am only twelve without a mom.

    • Hi Brenna,

      That is horrible. I’m so sorry to hear about your mom.

    • iv got lchad..

    • OMG. Are you the only sibling?? How are you doing now? Losing a loved one is NEVER easy and I am deeply sorry for your loss. I lost my mother when I was 13 to Cancer. It’s been 40 years and lost my beloved 4 years ago to Cancer as well…Both seems like just yesterday. Please email me if you ever want to talk or neeed someone to just listen.

  2. One of my college friends has LCHAD. I never new much about it. Only now I realize how dramatic this disease is. I am truly sorry for every one with LCHAD.
    God smiles on you!

    • It can be hard a times. We try to remain optimistic since for the most part it is a manageable disease.

  3. Stephanie Brower

    My son James has LCHAD, he is 29 years olds. Your story sounds so similar to what we went through in 1985! our Initial stay in the hospital was over three months. James continues to struggle to keep his condition under control and often has problems with high ammonia levels , this is usually presented by nausea and vomiting. He is also legally blind, some with this disease do not become blind but for James he had vision problems that were diagnosed at the age of 9. James is a great young, resilient young man! So blessed to still have him in our lives!

  4. I have 2 granddaughters
    age. 3 and 23 months have LCHAD diagnosed at birth by the new born tests. They lived on monogen or their first year of life and had no illneses until foods were introducedthey are on a strict low fat diet. The 3 year old was only hospitalized twice.the23 month old once. They are seen regularlly at childrens hospital philadelphia the metabolic disease section.there is only one other child currently with lchad.does any one know what ethnic group is most affected We think its form the viking side norwegian my sonand german my daughter.on family research we have not found any other relatives effected.l

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