Rare Gastroenterology News

Disease Profile

Sarcosinemia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

E72.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Sarcosine dehydrogenase complex deficiency; SARD deficiency; Hypersarcosinemia;

Categories

Congenital and Genetic Diseases; Metabolic disorders

Summary

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]

Symptoms

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.

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

Treatment

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]

Organizations

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

    Learn more

    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.

      References

      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; https://www.omim.org/entry/268900.
      3. Jaak Jaeken. Sarcosinemia. Orphanet. July, 2006; https://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; https://www.climb.org.uk/IMD/Sierra/Sarcosinemia.pdf.

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