Disease association ontology term - MONDO:0013762 - lipoic acid synthetase deficiency
Term summary
- ID
- MONDO:0013762
- Name
- lipoic acid synthetase deficiency
- Ontology or CV name
- Disease association
- Definition
- Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.
