During fetal life, fatty acids and lipids are used almost for anabolism in cellular growth. Fatty acids are the preferred fuel for the heart. Lipid disorders occur as there is not enough enzymes in our body to break down lipids or the enzymes may not work properly and body can’t convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow.
Defects in the intraluminal hydrolysis of fat; defective mucosal fat absorption; defective lymphatic transport of fat can lead to lipid disorders.
Deficiency thus can result in delayed mental and physical development. The enzyme most commonly deficient is medium chain acyl-CoA dehydrogenase (MCAD) & long chain-3-hydroxyacyl-CoA-deficiency (LCHAD)
The fatty acid oxidation defects can be asymptomatic during periods when there is no fasting stress. Abnormal liver function, cardiac & skeletal myopathy, hypoglycemia, acidosis, retinopathy, neuropathy is observed with enzyme deficiency.
Diagnosis is done by tandem mass spectrometry which detect disorders and permit pre-symptomatic diagnosis.
A low fat diet, high carbohydrate food plan is recommended. Carbohydrates give the body many types of sugar that can be used as energy. Children with LCHAD cannot use certain building blocks of fat called ‘long chain fatty acids’ instead increase fat in the form of MCTs.
The diet is specific to each infant depending on the severity of condition, age, growth rate and result of diagnostic reports. Consult a dietician to fine-tune your child’s diet over time.
Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.