Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Inborn errors of cholesterol biosynthesis.

R I Kelley1

  • 1Johns Hopkins University, Baltimore, Md., USA.

Advances in Pediatrics
|August 26, 2000
PubMed
Summary
This summary is machine-generated.

Disorders in cholesterol biosynthesis severely impact embryonic development, causing conditions like Smith-Lemli-Opitz syndrome. Supplementing cholesterol can improve feeding, growth, and even reduce autistic behaviors in affected children.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Journal of medical genetics·2007
Same author

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Journal of medical genetics·2007
Same author

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

American journal of medical genetics. Part A·2006
Same author

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

European journal of medical genetics·2006
Same author

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Human mutation·2005
Same author

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Journal of medical genetics·2004
Same journal

Two Steps Forward-One Step Back: Keeping Pace with Advances.

Advances in pediatrics·2025
Same journal

Pediatric Lymphadenopathy.

Advances in pediatrics·2025
Same journal

Vascular and Gastrointestinal Access in Children.

Advances in pediatrics·2025
Same journal

The Ouchless Pediatric Emergency Department.

Advances in pediatrics·2025
Same journal

Seizures and Shaking in Newborns and Babies.

Advances in pediatrics·2025
Same journal

Procalcitonin in Pediatric Emergency Medicine.

Advances in pediatrics·2025
See all related articles

Area of Science:

  • Biochemistry and Genetics
  • Developmental Biology
  • Metabolic Disorders

Background:

  • Disorders of cholesterol biosynthesis are rare metabolic diseases with significant prenatal developmental effects.
  • These conditions, unlike many metabolic diseases, manifest severe embryonic consequences.
  • Smith-Lemli-Opitz syndrome (SLOS) is a prime example, caused by a deficiency in the final step of cholesterol synthesis.

Purpose of the Study:

  • To explore the genetic and biochemical basis of cholesterol biosynthesis disorders.
  • To understand the impact of these disorders on embryonic development and congenital anomalies.
  • To investigate the clinical implications and potential therapeutic strategies for affected individuals.

Main Methods:

  • Biochemical analysis to identify enzyme deficiencies in cholesterol biosynthesis pathways.

Related Experiment Videos

  • Genetic studies to pinpoint mutations responsible for these disorders.
  • Clinical evaluation and monitoring of patients, including assessment of developmental outcomes and response to treatment.
  • Animal model systems to study prenatal cholesterol nutrition and embryonic development.

    • Main Results:

    • Defects in cholesterol biosynthesis lead to diverse congenital disorders, including SLOS and skeletal dysplasias like Conradi-Hünermann syndrome and desmosterolosis.
    • Abnormal cholesterol metabolism in SLOS impairs embryonic signaling proteins, such as Sonic hedgehog, affecting body plan development.
    • Supplementary cholesterol administration ameliorates feeding and growth issues in SLOS and has shown promise in reducing autistic behaviors.
    • A maternal-embryonic cholesterol delivery system via low-density lipoprotein has been identified.

    Conclusions:

    • Inborn errors of cholesterol biosynthesis provide critical insights into vertebrate embryonic development and metabolic pathways.
    • Cholesterol is essential for normal prenatal and postnatal development, with significant implications for growth, hormone synthesis, and neurological function.
    • Therapeutic cholesterol supplementation offers a viable treatment for certain developmental and behavioral issues associated with cholesterol biosynthesis defects.