Beta-mercaptolactate cysteine disulfiduria

An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000348 High forehead Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000444 Convex nasal ridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001852 Sandal gap Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0002983 Micromelia Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0100720 Hypoplasia of the ear cartilage Frequent (79-30%)
HP:0000069 Abnormality of the ureter Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID