Lipoyl transferase 1 deficiency
A rare inborn error of metabolism disorder with a highly variable phenotype typically characterized by neonatal to infancy-onset of seizures psychomotor delay and abnormal muscle tone that may include hypo- and/or hypertonia resulting in generalized weakness dystonic movements and/or progressive respiratory distress associated with severe lactic acidosis and elevated lactate ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration vomiting signs of liver dysfunction extrapyramidal signs spastic tetraparesis brisk deep tendon reflexes speech impairment swallowing difficulties and pulmonary hypertension.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Lipoyl transferase 1 deficiency?
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Advocacy Organizations
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
For a list of clinical trials in this disease area, please click here.