Cholesterol metabolism deficiency.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology or primary human data.
PubMed 23622407 · doi:10.1016/B978-0-444-59565-2.00054-X
What was done
This narrative review summarizes genetic defects in the enzymatic pathways of cholesterol biosynthesis, classifying eight distinct inherited disorders into pre-squalene and post-squalene segments of the pathway.
What was found
The abstract reports no quantitative data. It identifies eight distinct inherited disorders linked to cholesterol biosynthesis deficiencies, including two pre-squalene defects (classical mevalonic aciduria and hyperimmunoglobulinemia D syndrome) and six post-squalene defects (Smith-Lemli-Opitz syndrome, Conradi-Hünermann-Happle syndrome, CHILD syndrome, Greenberg skeletal dysplasia, lathosterolosis, and desmosterolosis). These disorders are characterized by elevated pathway-specific sterol intermediates and causal gene mutations, resulting in overlapping clinical phenotypes that include developmental delay, psychomotor retardation, structural brain malformations, microcephaly, cataracts, multiple congenital anomalies, and behavioral disorders.
Why it matters
It provides a structured overview of the molecular and clinical spectrum of inborn errors of cholesterol biosynthesis, highlighting the essential role of sterol intermediates in embryonic development and neurological function.
Limits
As a narrative review, the abstract presents no primary empirical data, sample sizes, systematic search methodology, or quantitative risk estimates.
Cited by
- supports Genetic conditions that compromise cholesterol synthesis are generally fatal in utero.