cystathioninuria

Pathology

• abnormal accumulation of plasma cystathionine

Genetics

• autosomal recessive
• associated with defects in CTH

Laboratory

• increased plasma cystathionine
• increased urinary excretion of cystathionine

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/219500