Which among the following is a manifestation of LCHAD deficiency?
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inherited metabolic disease caused by the impaired functionality of a paicular enzyme (long-chain 3-hydroxyacyl-coenzyme A dehydrogenase, LCHAD). This enzyme deficiency makes it harder for the body to break down fatty acids. Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver problems, and abnormalities in the light-sensitive tissue at the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious hea problems, breathing difficulties, coma, and sudden death. A woman who is heterozygous for LCHAD deficiency and whose fetus has the disorder can have unexpected and life-threatening acute fatty liver of pregnancy. HELLP Syndrome (hemolysis, elevated liver enzymes, and low platelets) may occur in pregnancies where a fetus is affected with LCHAD deficiency.
Fatty liver of pregnancy
Liver failure
HELLP syndrome
All of the above