Lipoic acid synthetase deficiency

MONDO:0013762

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.

Also known as: HGCLAS, PDHLD, hyperglycinemia, lactic acidosis, and seizures, pyruvate dehydrogenase lipoic acid synthetase deficiency

57 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Inherited lipid metabolism disorder (165) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42)

Trials to join now! 26 Not yet recruiting 6 Not yet finished but already full! 7 Completed 17 Terminated 1

Lipoic acid synthetase deficiency

Broader categories

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