Families

Summary of the Disease
NFU1 deficiency is an ultrarare  genetic condition, with just over 50 cases reported worldwide. It is inherited as an autosomal recessive way. The NFU1 protein helps cells produce small structures called iron–sulfur clusters, which are important for energy production and for making lipoic acid. When the NFU1 protein does not work properly, these processes are affected, especially in organs like brain, muscle and lungs. The condition most often appears early in life. Many affected children develop neurological symptoms, such as loss of skills they had already acquired, along with pulmonary hypertension. Brain MRI often shows changes in the white matter (leukoencephalopathy). Some children, however, develop symptoms later and usually have a milder course. These individuals may experience leg stiffness or weakness and walking difficulties (spastic paraplegia) and developmental delay, but importantly, they typically do not develop pulmonary hypertension. Diagnosis of NFU1 deficiency is based on clinical symptoms, biochemical tests, and confirmation through genetic testing. Many patients have high levels of lactate and glycine in blood or other body fluids. Measuring levels of lipoic acid can help to identify this condition and other related disorders. At present, there is no specific treatment that targets the underlying cause of the disease and care focuses on supportive management, which may include monitoring, symptom management, and specialized care from a multidisciplinary medical team.