SARCOS
MCID: SRC015
MIFTS: 38

Sarcosinemia (SARCOS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia 57 74 20 58 73 54 39 71
Sarcosine Dehydrogenase Complex Deficiency 57 20 58 73
Sard Deficiency 57 20 73 6
Hypersarcosinemia 57 20 73
Sardh Deficiency 57 20 73
Sarcos 57 73
Sardhd 57 73
Sardh Deficiency; Sardhd 57

Characteristics:

Orphanet epidemiological data:

58
sarcosinemia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
sarcosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 268900
MeSH 44 D000592
MESH via Orphanet 45 C537236
ICD10 via Orphanet 33 E72.5
UMLS via Orphanet 72 C0268563
Orphanet 58 ORPHA3129
MedGen 41 C0268563
UMLS 71 C0268563

Summaries for Sarcosinemia

GARD : 20 Sarcosinemia is a rare inborn error of metabolism characterized by an increased level of the amino acid sarcosine in the blood and urine. It is reportedly most likely benign, unrelated to significant signs or symptoms. A number of children have been detected by newborn screening and have remained symptom-free. 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. However, whether symptoms were attributable to sarcosinemia or were coincidental is controversial. Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner. It may also occur in some people with glutaric acidemia type II or severe folic acid deficiency. In some cases, the cause is unknown.

MalaCards based summary : Sarcosinemia, also known as sarcosine dehydrogenase complex deficiency, is related to osteoporosis and bone mineral density quantitative trait locus 8. An important gene associated with Sarcosinemia is SARDH (Sarcosine Dehydrogenase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Glycine, serine and threonine metabolism. The drugs Vitamin D and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include cortex, kidney and prostate, and related phenotypes are hypersarcosinemia and hypersarcosinuria

OMIM® : 57 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). (268900) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Sarcosinemia: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems.

Wikipedia : 74 Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive... more...

Related Diseases for Sarcosinemia

Graphical network of the top 20 diseases related to Sarcosinemia:



Diseases related to Sarcosinemia

Symptoms & Phenotypes for Sarcosinemia

Human phenotypes related to Sarcosinemia:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypersarcosinemia 58 31 obligate (100%) Obligate (100%) HP:0010896
2 hypersarcosinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010897
3 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
4 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
5 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
6 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
7 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
8 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
9 abnormality of movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0100022
10 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
12 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
13 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
14 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
15 tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002273
16 loss of speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002371
17 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
18 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
19 congenital blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007875
20 infantile sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008610
21 peroneal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0011727
22 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
23 generalized tonic-clonic seizures 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Misc:
benign metabolic state producing no disease

Lab:
sarcosinemia
sarcosine dehydrogenase deficiency
sarcosinuria

Clinical features from OMIM®:

268900 (Updated 05-Mar-2021)

Drugs & Therapeutics for Sarcosinemia

Drugs for Sarcosinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
2 Vitamins
3 Calcium, Dietary
4 Calciferol
5
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Exercise on Sarco-osteopenia in Community Dwelling Men 70 Years and Older. A Randomized Controlled Trial Completed NCT03453463

Search NIH Clinical Center for Sarcosinemia

Genetic Tests for Sarcosinemia

Anatomical Context for Sarcosinemia

MalaCards organs/tissues related to Sarcosinemia:

40
Cortex, Kidney, Prostate

Publications for Sarcosinemia

Articles related to Sarcosinemia:

(show all 26)
# Title Authors PMID Year
1
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. 6 57 61
22825317 2012
2
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. 57 61
1372986 1992
3
Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. 57 61
6207480 1984
4
Clinical and cellular studies of sarcosinemia. 61 57
5504071 1970
5
Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy. 57
9323574 1997
6
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 57
1937486 1991
7
Sarcosinaemia in a retarded, amaurotic child. 57
2420598 1986
8
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family. 57
6192074 1983
9
[Hypersarcosinemia with sarcosinuria. Study of a new case]. 57
5158355 1971
10
Hypersarcosinemia: an inborn error of metabolism. 57
5936868 1966
11
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. 61 54
10444331 1999
12
[Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. 54 61
10876657 1999
13
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. 61 54
8812433 1996
14
Quantitative analysis of sarcosine with special emphasis on biosensors: a review. 61
31050554 2019
15
Endogenous formaldehyde is a memory-related molecule in mice and humans. 61
31815201 2019
16
A Rapid Method for the Detection of Sarcosine Using SPIONs/Au/CS/SOX/NPs for Prostate Cancer Sensing. 61
30467297 2018
17
Evaluation of Oxidative Stress Parameters and Energy Metabolism in Cerebral Cortex of Rats Subjected to Sarcosine Administration. 61
27356917 2017
18
Chemically induced acute model of sarcosinemia in wistar rats. 61
26563127 2016
19
A young adult with sarcosinemia. No benefit from long duration treatment with memantine. 61
23430553 2013
20
[Elevated serum creatinine without discernible kidney disease]. 61
19294604 2009
21
Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. 61
17095900 2006
22
Molecular cloning and tissue distribution of rat sarcosine dehydrogenase. 61
9839943 1998
23
[Sarcosinemia associated with folate deficiency]. 61
9590031 1998
24
[Inborn errors of imino acid metabolism]. 61
1404885 1992
25
Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario. 61
1650287 1991
26
A Spanish family with sarcosinemia. 61
4677036 1972

Variations for Sarcosinemia

ClinVar genetic disease variations for Sarcosinemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SARDH NM_001134707.2(SARDH):c.211G>T (p.Val71Phe) SNV Affects 39448 rs397514504 9:136599085-136599085 9:133733963-133733963
2 SARDH NM_001134707.2(SARDH):c.860C>T (p.Pro287Leu) SNV Affects 39449 rs149481147 9:136594942-136594942 9:133729820-133729820
3 SARDH NM_001134707.2(SARDH):c.2167C>T (p.Arg723Ter) SNV Affects 39450 rs149391396 9:136536816-136536816 9:133671694-133671694
4 SARDH NM_001134707.2(SARDH):c.1540C>T (p.Arg514Ter) SNV Affects 39451 rs140559739 9:136570084-136570084 9:133704962-133704962

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

73
# Symbol AA change Variation ID SNP ID
1 SARDH p.Val71Phe VAR_069272 rs397514504
2 SARDH p.Pro287Leu VAR_069273 rs149481147

Expression for Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.

Pathways for Sarcosinemia

GO Terms for Sarcosinemia

Cellular components related to Sarcosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 SARDH PDP1 DMGDH
2 mitochondrial matrix GO:0005759 8.8 SARDH PDP1 DMGDH

Biological processes related to Sarcosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.96 SARDH DMGDH
2 choline catabolic process GO:0042426 8.62 SARDH DMGDH

Molecular functions related to Sarcosinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 SARDH DMGDH

Sources for Sarcosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....