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Sarcosine dehydrogenase deficiency(SAR)

MedGen UID:
120651
•Concept ID:
C0268563
•
Disease or Syndrome
Synonyms: Hypersarcosinemia; SAR; SAR deficiency; Sarcosin dehydrogenase complex, deficiency of; SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY; Sarcosinemia; SARD DEFICIENCY
SNOMED CT: Sarcosine dehydrogenase deficiency (64852002); Sarcosinuria (64852002); Sarcosinemia (64852002); Hypersarcosinemia (64852002); Deficiency of the sarcosine dehydrogenase complex (64852002); Demethylation defect of N-methylglycine (64852002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SARDH (9q34.2)
 
HPO: HP:0010896
Monarch Initiative: MONDO:0010008
OMIM®: 268900
Orphanet: ORPHA3129

Definition

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 (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001). [from OMIM]

Clinical features

From HPO
Sarcosine dehydrogenase deficiency
MedGen UID:
120651
•Concept ID:
C0268563
•
Disease or Syndrome
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 (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSarcosine dehydrogenase deficiency
Follow this link to review classifications for Sarcosine dehydrogenase deficiency in Orphanet.

Conditions with this feature

Sarcosine dehydrogenase deficiency
MedGen UID:
120651
•Concept ID:
C0268563
•
Disease or Syndrome
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 (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001).
See: Condition Record
Sarcosine dehydrogenase deficiency

Recent clinical studies

Diagnosis

SBF-1 exerts strong anticervical cancer effect through inducing endoplasmic reticulum stress-associated cell death via targeting sarco/endoplasmic reticulum Ca(2+)-ATPase 2.
Li W, Ouyang Z, Zhang Q, Wang L, Shen Y, Wu X, Gu Y, Shu Y, Yu B, Wu X, Sun Y, Xu Q
Cell Death Dis 2014 Dec 18;5(12):e1581. doi: 10.1038/cddis.2014.538. PMID: 25522275Free PMC Article
A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia.
Lee SY, Chan KY, Chan AY, Lai CK
Ann Acad Med Singap 2006 Aug;35(8):582-4. PMID: 17006587

Supplemental Content