lipoic acid synthetase deficiency
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.
MONDO:0018424
inherited lipoic acid biosynthesis defect
is_a
MONDO:0019169
pyruvate dehydrogenase deficiency
is_a
HGCLAS
related
PDHLD
related
pyruvate dehydrogenase lipoic acid synthetase deficiency
related
SPBC8D2.15