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.
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 and 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; and also nervous system abnormalities. Other reported cases also include feeling sleepy most of the time, nausea, vomiting, jitteriness, weakness, irritability and some changes in behavior. The most serious cases could lead to problems in breathing, coma, or even very sudden death.
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 and 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 and 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.