Christopher is a thriving, active 9 year old boy with a rare metabolic condition called LCHADD. He lives with his parents in Atlanta. He was the first baby with LCHADD to be picked up on the Expanded Newborn Screening in
Read moreLong-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare fatty acid oxidation (FAO) disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). LCHAD is associated with high mortality unless treated promptly. 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.