National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lipoic acid biosynthesis defects


Other Names:
Lipoate biosynthesis defect; Lipoic acid biosynthesis defect
Subtypes:
Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1, LIAS, DLD) which codifiy different enzymes. Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in mitochondrial energy metabolism with encephalopathy and cardiomyopathy (increased size of the heart muscle). LIPT1 deficiency resulted in early death in one patient and in a less severely affected individual with a Leigh-like syndrome clinical features. In DLD gene deficiency the clinical features are very varied depending on which of the affected enzymes is most rate limiting.[1]
Last updated: 7/10/2015

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In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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  1. Mayr JA, Feichtinger RG, Tort F, Ribes A & Sperl W. Lipoic acid biosynthesis defects. J Inherit Metab Dis.. July, 2014; 37(4):553-63. http://www.ncbi.nlm.nih.gov/pubmed/24777537. Accessed 7/10/2015.