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 synthetase deficiency


Other Names:
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Categories:
This disease is grouped under:
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.[1][2]
Last updated: 9/22/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Cerebral atrophy
Degeneration of cerebrum
0002059
Leukodystrophy 0002415
Percent of people who have these symptoms is not available through HPO
Apnea 0002104
Autosomal recessive inheritance 0000007
Encephalopathy 0001298
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Flexion contracture
Flexed joint that cannot be straightened
0001371
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Increased serum lactate 0002151
Lactic acidosis
Increased lactate in body
0003128
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Motor delay 0001270
Myoclonus 0001336
Profound global developmental delay 0012736
Respiratory insufficiency
Respiratory impairment
0002093
Seizure 0001250
Severe global developmental delay 0011344
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Spastic tetraplegia 0002510
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  2. Pyruvate dehydrogenase lipoic acid synthetase deficiency. OMIM. February 3, 2012; http://omim.org/entry/614462. Accessed 7/10/2015.