Lipoic acid synthetase deficiency
Alternate names[edit | edit source]
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Definition[edit | edit source]
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.
Cause[edit | edit source]
It is caused by changes (mutations) in the LIAS gene.
Inheritance[edit | edit source]
It it is inherited in an autosomal recessive pattern.
Signs and symptoms[edit | edit source]
People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay.
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Lipoic acid synthetase deficiency is a rare disease.
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