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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Lipoyl transferase 1 deficiency?
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Fund research for 19 mt-aars conditions and provide patient support.
Cure Mito Foundation
Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.
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.
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.