Sarcosinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Name: Sarcosinemia ⁵⁷ ⁷³ ²⁰ ⁵⁸ ⁷² ⁵⁴ ³⁹ ⁷⁰

Sarcosine Dehydrogenase Complex Deficiency ⁵⁷ ²⁰ ⁵⁸ ⁷²

Sard Deficiency ⁵⁷ ²⁰ ⁷² ⁶

Hypersarcosinemia ⁵⁷ ²⁰ ⁷²

Sardh Deficiency ⁵⁷ ²⁰ ⁷²

Sarcos ⁵⁷ ⁷²

Sardhd ⁵⁷ ⁷²

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 20-May-2021)

Inheritance:
autosomal recessive

HPO:

³¹

sarcosinemia:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of amino-acid metabolism

Disorders of glycine metabolism

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 ⁷¹ C0268563

Orphanet ⁵⁸ ORPHA3129

MedGen ⁴¹ C0268563

UMLS ⁷⁰ C0268563

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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 Calciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and kidney, 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 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ Sarcosinemia (SAR), also called hypersarcosinemia and SARDH deficiency, is a rare autosomal recessive... more...

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Related Diseases for Sarcosinemia

Diseases related to Sarcosinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	osteoporosis	10.1
2	bone mineral density quantitative trait locus 8	10.1
3	bone mineral density quantitative trait locus 15	10.1
4	craniosynostosis 1	9.9
5	multiple acyl-coa dehydrogenase deficiency	9.9
6	hartnup disorder	9.9
7	autosomal recessive disease	9.9
8	organic acidemia	9.9
9	respiratory failure	9.9
10	severe acute respiratory syndrome	9.9
11	dystonia	9.9
12	hypoglycemia	9.9
13	acyl-coa dehydrogenase deficiency	9.9
14	dimethylglycine dehydrogenase deficiency	9.5	SARDH DMGDH
15	glycine n-methyltransferase deficiency	9.4	SARDH DMGDH

Graphical network of the top 20 diseases related to Sarcosinemia:

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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 20-May-2021)

Misc:
benign metabolic state producing no disease

Lab:
sarcosinemia
sarcosine dehydrogenase deficiency
sarcosinuria

Clinical features from OMIM®:

268900 (Updated 20-May-2021)

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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

Calciferol

3

Calcium, Dietary

4

Vitamins

5

Calcium

Nutraceutical

7440-70-2

271

Synonyms:

Ca

Ca(2+)

Ca2+

Calcio

Calcium

Calcium element

CALCIUM ion

Calcium(2+)

Calcium, doubly charged positive ion

Calcium, elemental

Elemental calcium

Kalzium

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

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Genetic Tests for Sarcosinemia

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Anatomical Context for Sarcosinemia

MalaCards organs/tissues related to Sarcosinemia:

⁴⁰

Bone, Cortex, Kidney, Prostate

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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. ⁶¹ ⁵⁷ ⁶	Bar-joseph I...Anikster Y	22825317	2012
2	sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis. ⁵⁷ ⁶¹	Harding CO...Wolff JA	1372986	1992
3	Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. ⁶¹ ⁵⁷	Levy HL...Benjamin R	6207480	1984
4	Clinical and cellular studies of sarcosinemia. ⁵⁷ ⁶¹	Scott CR...Swedberg KR	5504071	1970
5	Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy. ⁵⁷	Meissner T...Mayatepek E	9323574	1997
6	Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). ⁵⁷	De Braekeleer M	1937486	1991
7	Sarcosinaemia in a retarded, amaurotic child. ⁵⁷	Sewell AC...Wilhelm I	2420598	1986
8	Variability in the phenotypic expression of abnormal sarcosine metabolism in a family. ⁵⁷	Kang ES...Herrera C	6192074	1983
9	[Hypersarcosinemia with sarcosinuria. Study of a new case]. ⁵⁷	Willems C...Chapelle P	5158355	1971
10	Hypersarcosinemia: an inborn error of metabolism. ⁵⁷	Gerritsen T...Waisman HA	5936868	1966
11	Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. ⁶¹ ⁵⁴	Eschenbrenner M...Jorns MS	10444331	1999
12	[Molecular clonging of the human dimethyglycine dehydrogenase-like gene (DMGDHL1) from the sarcosinemia critical region at 9q34]. ⁶¹ ⁵⁴	Xia JH...Dai HP	10876657	1999
13	The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34. ⁵⁴ ⁶¹	Brunialti AL...Guenet JL	8812433	1996
14	Quantitative analysis of sarcosine with special emphasis on biosensors: a review. ⁶¹	Pundir CS...Kumar P	31050554	2019
15	Endogenous formaldehyde is a memory-related molecule in mice and humans. ⁶¹	Ai L...Tong Z	31815201	2019
16	A Rapid Method for the Detection of Sarcosine Using SPIONs/Au/CS/SOX/NPs for Prostate Cancer Sensing. ⁶¹	Uhlirova D...Kizek R	30467297	2018
17	Evaluation of Oxidative Stress Parameters and Energy Metabolism in Cerebral Cortex of Rats Subjected to Sarcosine Administration. ⁶¹	de Andrade RB...Wannmacher CMD	27356917	2017
18	Chemically induced acute model of sarcosinemia in wistar rats. ⁶¹	de Andrade RB...Wannmacher CM	26563127	2016
19	A young adult with sarcosinemia. No benefit from long duration treatment with memantine. ⁶¹	Benarrosh A...Bakchine S	23430553	2013
20	[Elevated serum creatinine without discernible kidney disease]. ⁶¹	Schley G...Vogt M	19294604	2009
21	Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor. ⁶¹	Deutsch SI...Mastropaolo J	17095900	2006
22	Molecular cloning and tissue distribution of rat sarcosine dehydrogenase. ⁶¹	Bergeron F...Bataille D	9839943	1998
23	[Sarcosinemia associated with folate deficiency]. ⁶¹	Hiraga K	9590031	1998
24	[Inborn errors of imino acid metabolism]. ⁶¹	Endo F	1404885	1992
25	Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario. ⁶¹	Haworth JC...Seargeant LE	1650287	1991
26	A Spanish family with sarcosinemia. ⁶¹	Hariga J...Delava S	4677036	1972

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Genes for Sarcosinemia

Genes related to Sarcosinemia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SARDH	Sarcosine Dehydrogenase	Protein Coding	1247.08	Molecular basis known ⁵⁷ Causative germline mutation ⁵⁸ Causative variation ⁷² Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	22825317 10444331 8812433 (more) 10876657
2	DMGDH	Dimethylglycine Dehydrogenase	Protein Coding	6.54	GeneCards inferred via : Publications (show sections)
3	PDP1	Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1	Protein Coding	6.54	GeneCards inferred via : Publications (show sections)

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Variations for Sarcosinemia

ClinVar genetic disease variations for Sarcosinemia:

⁶

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

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

⁷²

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

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Expression for Sarcosinemia

Search GEO for disease gene expression data for Sarcosinemia.

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Pathways for Sarcosinemia

Pathways related to Sarcosinemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glycerophospholipid biosynthesis ⁶⁵ Show member pathways Acyl chain remodeling of CL ⁶⁵ Acyl chain remodeling of DAG and TAG ⁶⁵ Acyl chain remodelling of PG ⁶⁵ Acyl chain remodelling of PI ⁶⁵ Choline catabolism ⁶⁵ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁶ Hydrolysis of LPC ⁶⁵ Hydrolysis of LPE ⁶⁵ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁵ Phosphonate and phosphinate metabolism ³⁶ Synthesis of CL ⁶⁵ Synthesis of PE ⁶⁵ Synthesis of PG ⁶⁵ Synthesis of PI ⁶⁵ Synthesis of PS ⁶⁵	11.69	SARDH DMGDH
2	Glycine, serine and threonine metabolism ³⁶ Show member pathways glycine betaine degradation ¹ superpathway of choline degradation to L-serine ¹	10.34	SARDH DMGDH

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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

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Sources for Sarcosinemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Sarcosinemia (SARCOS)

Aliases & Classifications for Sarcosinemia

MalaCards integrated aliases for Sarcosinemia:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Sarcosinemia

Related Diseases for Sarcosinemia

Diseases related to Sarcosinemia via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Sarcosinemia:

Symptoms & Phenotypes for Sarcosinemia

Human phenotypes related to Sarcosinemia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Sarcosinemia

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

Interventional clinical trials:

Genetic Tests for Sarcosinemia

Anatomical Context for Sarcosinemia

MalaCards organs/tissues related to Sarcosinemia:

Publications for Sarcosinemia

Articles related to Sarcosinemia:

Genes for Sarcosinemia

Genes related to Sarcosinemia (1 elite genes):

Variations for Sarcosinemia

ClinVar genetic disease variations for Sarcosinemia:

UniProtKB/Swiss-Prot genetic disease variations for Sarcosinemia:

Expression for Sarcosinemia

Pathways for Sarcosinemia

Pathways related to Sarcosinemia according to GeneCards Suite gene sharing:

GO Terms for Sarcosinemia

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

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

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

Sources for Sarcosinemia