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- Publisher Website: 10.1007/8904_2013_255
- Scopus: eid_2-s2.0-84906856723
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Article: Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome
Title | Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome |
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Authors | |
Keywords | Cholesterol biosynthesis Compound heterozygous mutation Developmental quotient Simvastatin treatment Total sterol |
Issue Date | 2014 |
Citation | Journal Of Inherited Metabolic Disease , 2014, v. 12, p. 129-134 How to Cite? |
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. |
Persistent Identifier | http://hdl.handle.net/10722/198057 |
ISSN | 2023 SCImago Journal Rankings: 0.532 |
DC Field | Value | Language |
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dc.contributor.author | Ho, CCA | en_US |
dc.contributor.author | Fung, CW | en_US |
dc.contributor.author | Siu, TS | en_US |
dc.contributor.author | Ma, OCK | en_US |
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Tam, S | en_US |
dc.contributor.author | Wong, VCN | en_US |
dc.date.accessioned | 2014-06-25T02:43:46Z | - |
dc.date.available | 2014-06-25T02:43:46Z | - |
dc.date.issued | 2014 | en_US |
dc.identifier.citation | Journal Of Inherited Metabolic Disease , 2014, v. 12, p. 129-134 | en_US |
dc.identifier.issn | 2192-8304 | - |
dc.identifier.uri | http://hdl.handle.net/10722/198057 | - |
dc.description.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. | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Journal Of Inherited Metabolic Disease | en_US |
dc.subject | Cholesterol biosynthesis | - |
dc.subject | Compound heterozygous mutation | - |
dc.subject | Developmental quotient | - |
dc.subject | Simvastatin treatment | - |
dc.subject | Total sterol | - |
dc.title | Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.email | Ho, CCA: accho@hku.hk | en_US |
dc.identifier.email | Fung, CW: fcw1209m@hkucc.hku.hk | en_US |
dc.identifier.email | Lam, CW: ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.email | Wong, VCN: vcnwong@hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.identifier.authority | Wong, VCN=rp00334 | en_US |
dc.identifier.doi | 10.1007/8904_2013_255 | en_US |
dc.identifier.scopus | eid_2-s2.0-84906856723 | - |
dc.identifier.hkuros | 229129 | en_US |
dc.identifier.hkuros | 236881 | - |
dc.identifier.volume | 12 | en_US |
dc.identifier.spage | 129 | en_US |
dc.identifier.epage | 134 | en_US |
dc.identifier.eissn | 2192-8312 | - |
dc.identifier.issnl | 2192-8304 | - |