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cystathioninuria
Pathology:
- abnormal accumulation of plasma cystathionine
Genetics:
- autosomal recessive
- associated with defects in CTH
Laboratory:
- increased plasma cystathionine
- increased urinary excretion of cystathionine
General
amino acid inborn error of metabolism
Database Correlations
OMIM 219500
References
OMIM :accession 219500