CoChat
Sign Up
Cited by 27Metabolism and Genetic DisordersCholesterol and Lipid MetabolismGenetic and rare skin diseases.

Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome

Open access
Ho, A. C. C., Fung, C. W., Siu, T. S., Ma, O. C. K., Lam, C. W., Tam, S., Wong, V. C. N.·2013·JIMD Reports
DOI 10.1007/8904_2013_255PMC PMC3897790
Open this paper in CoChat — free accountOpen PDF

Abstract

Lathosterolosis is an inborn error of cholesterol biosynthesis due to deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase (or sterol-C5-desaturase or SC5D). This leads to a block in conversion of lathosterol into 7-dehydrocholesterol. Only three patients with lathosterolosis have been reported in literature, of which one survived. We report a patient with dysmorphism, multiple congenital anomalies, and developmental delay, initially suspected to have Smith-Lemli-Opitz syndrome, who was later found to have elevated levels of lathosterol in both plasma and fibroblasts. Genetic study confirmed a compound heterozygous mutation in the sterol-C5-desaturase-like (SC5DL) gene on chromosome 11q23. Simvastatin was started as a treatment therapy and it resulted in normalization of blood lathosterol level and improvement in the neurodevelopmental profile. However, additional patients are needed for better delineation of the clinical spectrum, genotype-phenotype correlation, and potential efficacy of simvastatin treatment in this rare disorder. If the presence of distinctive facial features and limb anomalies raise the suspicion of a cholesterol biosynthesis defect, testing of full sterol profile is warranted as normal cholesterol or 7-dehydrocholesterol levels cannot rule out the diagnosis of cholesterol synthesis defect like lathosterolosis.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1007/8904_2013_255

Cites

7 of 7 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • These mildly increased lathosterol levels are substantially less than the lowest lathosterol level found in a clinically mild case of lathosterolosis (32.0 μg/mL).

    “In addition, these mildly increased lathosterol levels are substantially less than the lowest lathosterol level found in a clinically mild case of lathosterolosis (32.0 µg/mL) [86].”

    From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [86]

    The Case History reports a markedly elevated plasma lathosterol level of 81.6 in this patient, and the Discussion describes the patient's phenotype as milder than those of the other reported patients. The copy does not give the claimed 32.0 µg/mL figure explicitly or establish that this was the lowest plasma lathosterol level among clinically mild cases. (LLM, conf=0.80)

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Ho, A. C. C., Fung, C. W., Siu, T. S., Ma, O. C. K., Lam, C. W., Tam, S., & Wong, V. C. N.
Affiliations
Queen Mary Hospital (CN)
Corresponding author
Wong, V. C. N.
ORCID
Wong, V. C. N.
Venue
JIMD Reports
Publisher
Springer International Publishing
Published
2013
Volume
12
Pages
129-134
ISSN
  • 2192-8304 (ISSN-L)
  • 2192-8312
DOI
10.1007/8904_2013_255
PMC
PMC3897790
OpenAlex
W1581672737
Cited by
27
References
7
Citations by year
2025: 1 · 2024: 1 · 2023: 5 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 5 · 2018: 1 · 2017: 1 · 2016: 4 · 2015: 2 · 2014: 1
FWCI
3.80
Type
book chapter
Language
en
Open access
Locations
  • JIMD Reports (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords
cholesterol biosynthesis, Smith-Lemli-Opitz syndrome, compound heterozygosity, lathosterol, 7-dehydrocholesterol, simvastatin, dysmorphic features, congenital malformations, developmental delay, genotype-phenotype correlation

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review