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Two new sulphur‐containing amino acids in man
Author(s) -
Truscott Roger J. W.,
Malegan Don,
McCairns Eric,
Halpern Berthold,
Hammond Judy,
Cotton Richard G. H.,
Mercer Julian F. B.,
Hunt Sue,
Rogers John G.,
Danks David M.
Publication year - 1981
Publication title -
biomedical mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0306-042X
DOI - 10.1002/bms.1200080304
Subject(s) - cysteine , valine , cystinuria , amino acid , chemistry , conjugate , biochemistry , cysteamine , decarboxylation , cystine , urine , sulfur , enzyme , organic chemistry , mathematical analysis , mathematics , catalysis
Two unusual sulphur‐containing amino acids have been isolated from urine of a baby who died with major physical malformations and failure of growth and development. Sensitive mass spectrometric methods were used to identify the nanomole quantities of the compounds available as S ‐(2‐carboxypropyl)‐cysteine and S ‐(2‐carboxypropyl)‐cysteamine. Incubation of fibroblasts in either [ 14 C]valine or [ 35 S]cysteine resulted in radioactive labelling of the compounds, suggesting their origin from conjugation of methacrylic acid with cysteine and subsequent decarboxylation of the cysteine conjugate. Specific assay of methacrylyl‐CoA hydratase is needed for final proof that this is a new inborn error of that enzyme, but these findings and parental consanguinity make this very likely. It seems possible that methacrylic acid or one of its derivatives may have caused the malformations present in the baby.