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

Sarcosinemia


Other Names:
Sarcosine dehydrogenase complex deficiency; SARD deficiency; Hypersarcosinemia; Sarcosine dehydrogenase complex deficiency; SARD deficiency; Hypersarcosinemia; SARDH deficiency See More
Categories:
Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine.[1] It is reportedly most likely benign, unrelated to significant signs or symptoms.[2][3][4] A number of children have been detected by newborn screening and have remained symptom-free.[5] Some reports have associated sarcosinemia with various symptoms including intellectual disability and other neurologic problems; growth failure; enlarged liver; cardiomyopathy; vision or hearing problems; and skeletal abnormalities.[2][1][5] However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial.[4] Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner.[2][4] It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency.[2] In some cases, the cause is unknown.[4]
Last updated: 5/9/2016

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
100% of people have these symptoms
Hypersarcosinemia
High plasma sarcosine levels
0010896
80%-99% of people have these symptoms
Hypersarcosinuria
High urine sarcosine levels
0010897
5%-29% of people have these symptoms
Abnormality of movement
Movement disorder
Unusual movement
[ more ] 		0100022
Ataxia 0001251
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Congenital blindness
Blindness present at birth
0007875
Dyslexia
Reading disability
0010522
Emotional lability
Emotional instability
0000712
Global developmental delay 0001263
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Infantile sensorineural hearing impairment 0008610
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Loss of speech 0002371
Motor delay 0001270
Optic atrophy 0000648
Peroneal muscle weakness 0011727
Poor speech 0002465
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tetraparesis 0002273
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020
We are not aware of any treatment guidelines or recommendations for sarcosinemia. Many believe that treatment is not needed because it is assumed to be a benign condition.[6]
Last updated: 5/9/2016

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

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sarcosinemia. Click on the link to view a sample search on this topic.

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. Submit a new question

  • My daughter was diagnosed with autism at age 2. She has failed to make any significant progress since her diagnosis despite all the interventions. She recently had an organic acid urine test and from the test result she was diagnosed with hypersarcosinemia. Could anyone help me understand this condition and how it can be managed? See answer


  1. A. Benarrosh, R. Garnotel, A. Henry, C. Arndt, P. Gillery, J. Motte, and S. Bakchine. A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine. JIMD Rep. 2013; 9:93-96.
  2. Nara Sobreira. SARCOSINEMIA; SARCOS. OMIM. January 29, 2013; http://www.omim.org/entry/268900.
  3. Jaak Jaeken. Sarcosinemia. Orphanet. July, 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129.
  4. Bar-joseph I, et. al. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. Hum Genet. November, 2012; 131(11):1805-1810.
  5. Jaak Jaeken. Sarcosinemia. Orphanet Encyclopedia. August, 2001; https://www.orpha.net/data/patho/GB/uk-sarco.pdf.
  6. Climb National Information Centre for Metabolic Diseases. Sarcosinemia. March 1, 2010; http://www.climb.org.uk/IMD/Sierra/Sarcosinemia.pdf.