Sarcosinemia
Synonyms: Sarcosine dehydrogenase complex deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sarcosinemia | Sarcosine dehydrogenase complex deficiency |
| fr | Sarcosinémie | Déficit en complexe sarcosine déshydrogénase |
| de | Sarkosinämie | Sarkosin-Dehydrogenase-Komplex-Mangel |
| es | Sarcosinemia | Deficiencia del complejo sarcosina deshidrogenasa |
| it | Sarcosinemia | Deficit del complesso sarcosina deidrogenasi |
| nl | Sarcosinemie | Sarcosine dehydrogenasecomplexdeficiëntie |
| pt | Sarcosinemia | Deficiência do complexo sarcosina desidrogenase |
| pl | Sarkozynemia | Niedobór kompleksu dehydrogenazy sarkozyny |
| cs | Sarkosinemie | Deficit sarkosindehydrogenázového komplexu |
| uk | Саркозінемія | Дефіцит саркозиндегідрогеназного комплексу |
| zh | 肌氨酸血症 | 肌氨酸脱氢酶复合物缺乏症 |
| tr | Sarkozinemi | Sarkozin dehidrojenaz kompleks eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268900 | E | validated | |
| ICD-10 | E72.5 | NTBT | inclusion | validated |
| ICD-11 | 5C50.71 | E | specific | validated |
| MONDO | 0010008 | E | validated | |
| MeSH | C537236 | E | validated | |
| UMLS | C0268563 | E | validated | |
| GARD | 158 | E | validated | |
| MedDRA | 10059299 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79194Disorder of serine or glycine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SARDH | Disease-causing germline mutation(s) in | Assessed | HGNC:10536 | ENSG00000123453 | 604455 | 9q34.2 | sarcosine dehydrogenase | 22825317[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 / 100 000 | United States | Value and class | Validated | 6207480[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Specific population | Value and class | Validated | ISBN:79092543[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2019-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0010896 | Hypersarcosinemia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0010897 | Hypersarcosinuria | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007875 | Congenital blindness | |
| HP:0010522 | Dyslexia | |
| HP:0000712 | Emotional lability | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002371 | Loss of speech | |
| HP:0001270 | Motor delay | |
| HP:0000648 | Optic atrophy | |
| HP:0011727 | Peroneal muscle weakness | |
| HP:0002465 | Poor speech | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002273 | Tetraparesis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22825317[PMID]_9323574[PMID]_2420598[PMID]_6207480[PMID]_5504071[PMID]_5936868[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3129
- This record as JSON: /data/d/3129.json