MCDU
MCID: MRC009
MIFTS: 20

Mercaptolactate-Cysteine Disulfiduria (MCDU)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mercaptolactate-Cysteine Disulfiduria

MalaCards integrated aliases for Mercaptolactate-Cysteine Disulfiduria:

Name: Mercaptolactate-Cysteine Disulfiduria 57 6 70
Mcdu 57 58
3-Mercaptopyruvate Sulfurtransferase Deficiency 58
Beta-Mercaptolactate Cysteine Disulfiduria 58
Disulfiduria, Mixed 57
Ampola Syndrome 58

Characteristics:

OMIM®:

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


HPO:

31
mercaptolactate-cysteine disulfiduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 249650
ICD10 via Orphanet 33 E72.1
UMLS via Orphanet 71 C0796055
Orphanet 58 ORPHA1035
MedGen 41 C0796055
UMLS 70 C0796055

Summaries for Mercaptolactate-Cysteine Disulfiduria

MalaCards based summary : Mercaptolactate-Cysteine Disulfiduria, also known as mcdu, is related to ampola syndrome and anxiety. An important gene associated with Mercaptolactate-Cysteine Disulfiduria is MPST (Mercaptopyruvate Sulfurtransferase). Related phenotypes are intellectual disability and high palate

Wikipedia : 73 In enzymology, a 3-mercaptopyruvate sulfurtransferase (EC 2.8.1.2) is an enzyme that catalyzes the... more...

More information from OMIM: 249650

Related Diseases for Mercaptolactate-Cysteine Disulfiduria

Diseases related to Mercaptolactate-Cysteine Disulfiduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ampola syndrome 11.5
2 anxiety 10.3

Symptoms & Phenotypes for Mercaptolactate-Cysteine Disulfiduria

Human phenotypes related to Mercaptolactate-Cysteine Disulfiduria:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
2 high palate 58 31 Frequent (79-30%) HP:0000218
3 seizures 58 Very frequent (99-80%)
4 frontal bossing 58 Frequent (79-30%)
5 eeg abnormality 58 Frequent (79-30%)
6 muscular hypotonia 58 Frequent (79-30%)
7 depressed nasal bridge 31 HP:0005280
8 umbilical hernia 58 Occasional (29-5%)
9 anteverted nares 58 Frequent (79-30%)
10 short stature 58 Very frequent (99-80%)
11 aminoaciduria 31 HP:0003355
12 genu valgum 58 Frequent (79-30%)
13 strabismus 58 Frequent (79-30%)
14 dry skin 58 Frequent (79-30%)
15 obesity 58 Occasional (29-5%)
16 high, narrow palate 31 HP:0002705
17 atrial septal defect 58 Occasional (29-5%)
18 arachnodactyly 58 Frequent (79-30%)
19 downslanted palpebral fissures 58 Frequent (79-30%)
20 sandal gap 58 Frequent (79-30%)
21 low-set, posteriorly rotated ears 58 Frequent (79-30%)
22 joint hyperflexibility 58 Frequent (79-30%)
23 high forehead 58 Very frequent (99-80%)
24 convex nasal ridge 58 Frequent (79-30%)
25 micromelia 58 Frequent (79-30%)
26 abnormality of the ureter 58 Occasional (29-5%)
27 hypoplasia of the ear cartilage 58 Frequent (79-30%)
28 hypokinesia 31 HP:0002375
29 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Lab:
aminoaciduria
beta-mercaptolactate-cysteine disulfiduria
mercaptopyruvate sulfurtransferase (mst) deficiency
excess urinary mercaptolactate
excess urinary mercaptoacetate

H E E N T:
flat nasal bridge
high arched palate

Neuro:
mental retardation
grand mal seizures
placid
hypokinetic

Clinical features from OMIM®:

249650 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mercaptolactate-Cysteine Disulfiduria

Search Clinical Trials , NIH Clinical Center for Mercaptolactate-Cysteine Disulfiduria

Genetic Tests for Mercaptolactate-Cysteine Disulfiduria

Anatomical Context for Mercaptolactate-Cysteine Disulfiduria

Publications for Mercaptolactate-Cysteine Disulfiduria

Articles related to Mercaptolactate-Cysteine Disulfiduria:

(show all 14)
# Title Authors PMID Year
1
3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family. 61 57
6945862 1981
2
Sulfur amino acids as precursors of beta-mercaptolactate-cysteine disulfide in human subjects. 57
5131448 1971
3
Mental deficiency and a new aminoaciduria. 57
4973015 1969
4
Beta-mercaptolactate-cysteine disulfide in the urine of a mentally retarded patient. 57
5812433 1969
5
Increased Urinary 3-Mercaptolactate Excretion and Enhanced Passive Systemic Anaphylaxis in Mice Lacking Mercaptopyruvate Sulfurtransferase, a Model of Mercaptolactate-Cysteine Disulfiduria. 61
32012740 2020
6
Redox regulation of mammalian 3-mercaptopyruvate sulfurtransferase. 61
25725525 2015
7
Regulation of mercaptopyruvate sulfurtransferase activity via intrasubunit and intersubunit redox-sensing switches. 61
23146073 2013
8
Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria. 61
23759691 2013
9
Evidence for a functional genetic polymorphism of the human mercaptopyruvate sulfurtransferase (MPST), a cyanide detoxification enzyme. 61
16545926 2006
10
The mercaptopyruvate pathway in cysteine catabolism: a physiologic role and related disease of the multifunctional 3-mercaptopyruvate sulfurtransferase. 61
16719781 2006
11
Metabolism ofL-cysteine via transamination pathway (3-mercaptopyruvate pathway). 61
24193124 1992
12
3-Mercaptopyruvate sulfurtransferase activity in guinea pig and rat tissues. 61
3862140 1985
13
Survival data from a multiphasic mobile cancer detection unit. 61
1018882 1976
14
beta-Mercaptolactate cysteine disulfiduria in two normal sisters. Isolation and characterization of beta-mercaptolactate cysteine disulfide. 61
4690911 1973

Variations for Mercaptolactate-Cysteine Disulfiduria

ClinVar genetic disease variations for Mercaptolactate-Cysteine Disulfiduria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPST NM_021126.6(MPST):c.314A>G (p.Tyr105Cys) SNV not provided 684529 rs747813616 GRCh37: 22:37420510-37420510
GRCh38: 22:37024469-37024469

Expression for Mercaptolactate-Cysteine Disulfiduria

Search GEO for disease gene expression data for Mercaptolactate-Cysteine Disulfiduria.

Pathways for Mercaptolactate-Cysteine Disulfiduria

GO Terms for Mercaptolactate-Cysteine Disulfiduria

Sources for Mercaptolactate-Cysteine Disulfiduria

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....