Read about 3-hydroxyacyl-coa dehydrogenase deficiency medical facts: what is the definition of 3-hydroxyacyl-coa dehydrogenase deficiency, what are the signs and symptoms, medical treatment & how to treat 3-hydroxyacyl-coa dehydrogenase deficiency, prevalence, inheritance, and related 3-hydroxyacyl-coa dehydrogenase deficiency diseases.


3-hydroxyacyl-coa dehydrogenase deficiency definition: LCHAD or the long-chain 3-hydroxyacyl-CoA dehydrogenase is one of the components of the trifunctional protein of mitochondria. When a person becomes deficient of LCHAD activity, he will soon show various manifestations of his inherited condition.

Symptoms & Signs

With the onset of the deficiency, various symptoms start to show such as hypotonia, hypertrophic cardiomyopathy infections for children under the age of 2, or hypoglycemia which manifests after long fasts. Patients later acquire peripheral neuropathy & retinopathy. The HELLP (haemolysis, elevated liver enzymes, low platelets) syndrome could also show among heterozygous mothers. Diagnosis of the disorder can only be confirmed by specifying the mutation of the G1528C enzyme or by the measurement of enzymatic activities. For expecting mothers, there are available prenatal diagnoses which involve the use of amniocytes. Most of the signs of this disorder show during infancy or on the onset of early childhood. The most common that parents should take note of are: difficulty in feeding the child; lethargy or the lack of vigor; problems with the liver; eye abnormalities; muscle pains; & also nervous system abnormalities. Other reported cases also include feeling sleepy most of the time, nausea, vomiting, jitteriness, weakness, irritability & some changes in behavior. The most serious cases could lead to problems in breathing, coma, or even very sudden death.

Treatment: How to Treat "3-hydroxyacyl-coa dehydrogenase deficiency"?

Although many believe that the administration of L-carnitine to LCHAD deficient patients could help, there is still much debate when it comes to its effects. There are studies that show that carnitine supplements might improve the clinical results in LCHAD deficient people. There are also studies which show otherwise & these studies argue that L-carnitine administration do not show evidence of improvements in patients. It is imperative for parents of patients to meet with dieticians & specialists that have a good know-how of this disorder. These specialists will be able to map a treatment that might work for the suffering patient.


There is no single accepted record or fact which defines the exact number of cases of 3-hydroxyacyl-coenzyme dehydrogenase deficiency. One study on Finnish population indicated that 1 in every 62,000 pregnancies can be affected by this disorder. It is assumed that the cases in the United States could be much lower.


Now, the question is how can individuals inherit this disorder? This condition can be inherited when 2 copies of genes that have mutated join to form the disease. When both parents have autosomal recessive blueprint in them (1 mutated gene each), then the child is in for a 25% chance of acquiring the disorder

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