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Article: Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome

TitleLathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome
Authors
Issue Date2014
Citation
Journal Of Inherited Metabolic Disease , 2014, v. 12, p. 129-134 How to Cite?
AbstractLathosterolosis 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 Identifierhttp://hdl.handle.net/10722/198057

 

DC FieldValueLanguage
dc.contributor.authorHo, CCAen_US
dc.contributor.authorFung, CWen_US
dc.contributor.authorSiu, TSen_US
dc.contributor.authorMa, OCKen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorTam, Sen_US
dc.contributor.authorWong, VCNen_US
dc.date.accessioned2014-06-25T02:43:46Z-
dc.date.available2014-06-25T02:43:46Z-
dc.date.issued2014en_US
dc.identifier.citationJournal Of Inherited Metabolic Disease , 2014, v. 12, p. 129-134en_US
dc.identifier.urihttp://hdl.handle.net/10722/198057-
dc.description.abstractLathosterolosis 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.languageengen_US
dc.relation.ispartofJournal Of Inherited Metabolic Diseaseen_US
dc.titleLathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndromeen_US
dc.typeArticleen_US
dc.identifier.emailHo, CCA: accho@hku.hken_US
dc.identifier.emailFung, CW: fcw1209m@hkucc.hku.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.emailWong, VCN: vcnwong@hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.identifier.authorityWong, VCN=rp00334en_US
dc.identifier.doi10.1007/8904_2013_255en_US
dc.identifier.hkuros229129en_US
dc.identifier.hkuros236881-
dc.identifier.volume12en_US
dc.identifier.spage129en_US
dc.identifier.epage134en_US

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