Sarcosinemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SARDHD SARCOS HYPERSARCOSINEMIA SARDH DEFICIENCY SARD DEFICIENCY sarcosine dehydrogenase complex deficiency |
| Number of Symptoms | 5 |
| OrphanetNr: | 3129 |
| OMIM Id: |
268900
|
| ICD-10: |
E72.5 |
| UMLs: |
C0268563 |
| MeSH: |
C537236 |
| MedDRA: |
10059299 |
| Snomed: |
64852002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of serine or glycine metabolism
-Rare genetic disease |
Symptom Information:
|
|
(HPO:0010896) | Hypersarcosinemia | 1 / 7739 | ||||
|
|
(OMIM) | Sarcosinemia | 1 / 7739 | ||||
|
|
(OMIM) | Sarcosinuria | 1 / 7739 | ||||
|
|
(OMIM) | Sarcosine dehydrogenase deficiency | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase ... |
| Clinical Description OMIM |
Gerritsen and Waisman (1966) found hypersarcosinemia and sarcosinuria in brother and sister with mild mental retardation and few other abnormalities. Abnormal increases in blood and urine sarcosine occurred in 2 other sibs, the mother, a maternal aunt, and ... |
| Molecular genetics OMIM |
In 4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine, Bar-joseph et al. (2012) sequenced the SARDH gene and identified homozygous or ... |
| Population genetics OMIM |
Levy et al. (1984) found that the incidence of sarcosinemia identified by newborn screening in Massachusetts was 1/350,000. In the Saguenay-Lac-Saint-Jean region of Quebec province, De Braekeleer (1991) estimated the prevalence at birth of sarcosinemia to ... |