Open AccessThe Syndrome of 17,20 Lyase Deficiency
Author(s) -
Walter L. Miller
Publication year - 2011
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2011-2161
Subject(s) - lyase , context (archaeology) , enzyme , biology , genetics , biochemistry , paleontology
Disorders of steroidogenesis have been instrumental in delineating human steroidogenic pathways. Each genetic disorder seemed to correspond to a different steroidogenic activity, helping to identify several enzymes. Beginning in 1972, several patients have been reported as having "17,20 lyase deficiency," but there have been inconsistent genetic findings.
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