Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Abstract:

:Screening for Smith-Lemli-Opitz Syndrome (SLOS) using elevated 7-dehydrocholesterol (7DHC) as a marker is sensitive, but not always specific. Elevations of 7DHC can be seen in patients who do not have a defect in 7-dehydrocholesterol reductase. These results have often been attributed to medication artifacts, but specific causes have not been well reported. We examined the medical records of patients with elevated 7DHC to determine if they had been diagnosed with SLOS; and if they had not, to identify any common medications that may have caused the elevations. We found three individuals who were affected with SLOS, and 22 with elevated 7DHC in the absence of SLOS. Seven of these individuals underwent molecular testing which showed no mutations, while the other 15 were excluded based on clinical findings and other testing. The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results.

journal_name

Mol Genet Metab

authors

Hall P,Michels V,Gavrilov D,Matern D,Oglesbee D,Raymond K,Rinaldo P,Tortorelli S

doi

10.1016/j.ymgme.2013.04.004

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

176-8

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00113-3

journal_volume

110

pub_type

杂志文章
  • BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1.

    abstract::The insulin-like growth factor I receptor (IGF-I-R) has an important role in breast cancer etiology. The receptor is overexpressed by most breast cancers, where it functions as a potent antiapoptotic agent. BRCA1 is a tumor suppressor gene that is mutated in a large fraction of familial breast and ovarian cancers. Cot...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2958

    authors: Maor SB,Abramovitch S,Erdos MR,Brody LC,Werner H

    更新日期:2000-02-01 00:00:00

  • A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.

    abstract::Maple syrup urine disease (MSUD) is a rare, autosomal-recessive disorder of branched-chain amino-acid metabolism. In the Philippines, many MSUD cases have been diagnosed clinically. Here, molecular analysis of the dihydrolipoyl transacylase (E2) gene was done in 13 unrelated families from the Philippines. A novel dele...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2003.10.006

    authors: Silao CL,Padilla CD,Matsuo M

    更新日期:2004-02-01 00:00:00

  • Regulation of erythropoietin gene expression depends on two different oxygen-sensing mechanisms.

    abstract::Erythropoietin (Epo), a glycoprotein hormone produced principally in the fetal kidney and in the adult liver in response to hypoxia, is the prime regulator of growth and differentiation in erythroid progenitor cells. The regulation of Epo gene expression is not fully understood, but two mechanisms have been proposed. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2851

    authors: Daghman NA,McHale CM,Savage GM,Price S,Winter PC,Maxwell AP,Lappin TR

    更新日期:1999-06-01 00:00:00

  • Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.

    abstract::Enzyme replacement therapy (ERT) with intravenous recombinant human alpha-l-iduronidase (IV rhIDU) is a treatment for patients with mucopolysaccharidosis I (MPS I). Spinal cord compression develops in MPS I patients due in part to dural and leptomeningeal thickening from accumulated glycosaminoglycans (GAG). We tested...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.06.020

    authors: Dickson PI,Hanson S,McEntee MF,Vite CH,Vogler CA,Mlikotic A,Chen AH,Ponder KP,Haskins ME,Tippin BL,Le SQ,Passage MB,Guerra C,Dierenfeld A,Jens J,Snella E,Kan SH,Ellinwood NM

    更新日期:2010-10-01 00:00:00

  • Bacterial species identification after DNA amplification with a universal primer pair.

    abstract::The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1998.2795

    authors: McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

    更新日期:1999-03-01 00:00:00

  • Improved standards for prenatal diagnosis of citrullinemia.

    abstract::Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. I...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2014.05.004

    authors: Miller MJ,Soler-Alfonso CR,Grund JE,Fang P,Sun Q,Elsea SH,Sutton VR

    更新日期:2014-07-01 00:00:00

  • Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study.

    abstract::Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developme...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.02.012

    authors: Campeau PM,Pivalizza PJ,Miller G,McBride K,Karpen S,Goss J,Lee BH

    更新日期:2010-01-01 00:00:00

  • Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

    abstract:OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2009.03.006

    authors: Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

    更新日期:2009-07-01 00:00:00

  • Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

    abstract::Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.01.011

    authors: Leydiker KB,Neidich JA,Lorey F,Barr EM,Puckett RL,Lobo RM,Abdenur JE

    更新日期:2011-05-01 00:00:00

  • Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

    abstract::Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recrui...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.06.006

    authors: Masson E,Le Maréchal C,Levy P,Chuzhanova N,Ruszniewski P,Cooper DN,Chen JM,Férec C

    更新日期:2007-09-01 00:00:00

  • The effects of hyperglycemia on adrenal cortex function and steroidogenesis in the zebrafish.

    abstract::Since the 1950s, scientists have attempted to characterize the relationship between diabetes mellitus (DM) and the hypothalamic-pituitary-adrenal (HPA) axis. Similar complications are seen in patients with diabetes and Cushing's syndrome, leading some to suggest that an underlying abnormality in the HPA axis may be re...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.09.012

    authors: Powers JW,Mazilu JK,Lin S,McCabe ER

    更新日期:2010-12-01 00:00:00

  • Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

    abstract::Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.08.032

    authors: Meyer E,Kurian MA,Morgan NV,McNeill A,Pasha S,Tee L,Younis R,Norman A,van der Knaap MS,Wassmer E,Trembath RC,Brueton L,Maher ER

    更新日期:2011-12-01 00:00:00

  • Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID.

    abstract::Severe neurological deficits and mental retardation are frequently associated with disrupted ganglioside metabolism in a variety of gangliosidoses and lysosomal storage disorders. Accumulation of glycosphingolipids (GSLs) in the central nervous system (CNS) of humans and animals affected with several types of mucopoly...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2000.3139

    authors: Liour SS,Jones MZ,Suzuki M,Bieberich E,Yu RK

    更新日期:2001-03-01 00:00:00

  • Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.

    abstract::To elucidate the basis of mucopolysaccharidosis type VI (MPS VI) from the point of view of enzyme structure, we built structural models of mutant N-acetylgalactosamine-4-sulfatase (4S) resulting from 34 missense mutations (17 severe and 17 attenuated), and analyzed the influence of each amino acid replacement on the s...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.11.017

    authors: Saito S,Ohno K,Sugawara K,Sakuraba H

    更新日期:2008-04-01 00:00:00

  • Incidence of maple syrup urine disease in Portugal.

    abstract::Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 l...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.04.007

    authors: Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusébio F,Gaspar A,Sequeira S,Amorim A,Prata MJ

    更新日期:2010-08-01 00:00:00

  • CYP gene polymorphisms and early menarche.

    abstract::Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2001.3260

    authors: Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期:2001-12-01 00:00:00

  • The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.

    abstract::The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency cases and result in a complementation group A phenotype. Two cDNA seq...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/s1096-7192(02)00100-2

    authors: Gross-Hardt S,Reiss J

    更新日期:2002-08-01 00:00:00

  • Increased expression of anti-apoptosis genes in peripheral blood cells from patients with paroxysmal nocturnal hemoglobinuria.

    abstract::Resistance to apoptosis has been described in neutrophils from patients with PNH and related hematologic disorders (aplastic anemia, myelodysplastic syndrome), but its molecular basis is not understood. Using gene expression analysis, PNH granulocytes had relative overexpression of four anti-apoptosis genes (human A1,...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/s1096-7192(03)00047-7

    authors: Heeney MM,Ormsbee SM,Moody MA,Howard TA,DeCastro CM,Ware RE

    更新日期:2003-04-01 00:00:00

  • The higher susceptibility of congenital analbuminemic rats to Ca2+-induced mitochondrial permeability transition is associated with the increased expression of cyclophilin D and nitrosothiol depletion.

    abstract::Congenital analbuminemia is a rare autosomal recessive disorder characterized by a trace level of albumin in blood plasma and mild clinical symptoms. Analbuminemic patients generally present associated abnormalities, among which dyslipidemia is a hallmark. In this study, we show that mitochondria isolated from differe...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.08.031

    authors: Figueira TR,Castilho RF,Saito A,Oliveira HC,Vercesi AE

    更新日期:2011-12-01 00:00:00

  • Neurocognitive functioning in adults with phenylketonuria: Report of a 10-year follow-up.

    abstract:BACKGROUND:The long-term prognosis of early treated phenylketonuria (PKU) is still under discussion. Aim of this controlled long-term study was to assess the neurological and neuropsychological outcome in adult patients with early-treated PKU. METHODS:We investigated 35 patients with early-treated classical PKU aged 2...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2018.12.011

    authors: Feldmann R,Osterloh J,Onon S,Fromm J,Rutsch F,Weglage J

    更新日期:2019-03-01 00:00:00

  • Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).

    abstract::The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory insufficiency. Recent genetic studies have identified mutations in the C20orf54 gene, which encodes the human riboflavin (RF) transporter -2 (hRFT-2) and s...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.12.021

    authors: Nabokina SM,Subramanian VS,Said HM

    更新日期:2012-04-01 00:00:00

  • A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

    abstract::We have established a new method for the enzymatic diagnosis of glycogen storage disease type II (Pompe disease or acid maltase deficiency) using mixed leukocytes. The method employs glycogen and 4-methylumbelliferyl-alpha-D-glucopyranoside (4MU-alphaGlc) as substrates for measuring the lysosomal acid alpha-glucosidas...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.10.016

    authors: Okumiya T,Keulemans JL,Kroos MA,Van der Beek NM,Boer MA,Takeuchi H,Van Diggelen OP,Reuser AJ

    更新日期:2006-05-01 00:00:00

  • Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    abstract::Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1998.2739

    authors: Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

    更新日期:1998-09-01 00:00:00

  • ELMO1 variants and susceptibility to diabetic nephropathy in American Indians.

    abstract::Variants in the engulfment and cell motility 1 gene, ELMO1, have previously been associated with kidney disease attributed to type 2 diabetes. The Pima Indians of Arizona have high rates of diabetic nephropathy, which is strongly dependent on genetic determinants; thus, we sought to investigate the role of ELMO1 polym...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.08.014

    authors: Hanson RL,Millis MP,Young NJ,Kobes S,Nelson RG,Knowler WC,DiStefano JK

    更新日期:2010-12-01 00:00:00

  • Rare Saposin A deficiency: Novel variant and psychosine analysis.

    abstract::Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe diseas...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2019.08.001

    authors: Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

    更新日期:2020-02-01 00:00:00

  • Analysis of FOXO1A as a candidate gene for type 2 diabetes.

    abstract::The human forkhead box O1A (FOXO1A) gene on chromosome 13q14.1 is a key transcription factor in insulin signaling in liver and adipose tissue and plays a central role in the regulation of key pancreatic beta-cell genes including IPF1. We hypothesized that sequence variants of FOXO1A contribute to the observed defects ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2006.01.003

    authors: Karim MA,Craig RL,Wang X,Hale TC,Elbein SC

    更新日期:2006-06-01 00:00:00

  • Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

    abstract::The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2014.04.001

    authors: Adams DR,Yuan H,Holyoak T,Arajs KH,Hakimi P,Markello TC,Wolfe LA,Vilboux T,Burton BK,Fajardo KF,Grahame G,Holloman C,Sincan M,Smith AC,Wells GA,Huang Y,Vega H,Snyder JP,Golas GA,Tifft CJ,Boerkoel CF,Hanson RW,

    更新日期:2014-11-01 00:00:00

  • Recent advances in Dyggve-Melchior-Clausen syndrome.

    abstract::Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. Electron microscopy studies of both DMC chondrocytes and fibroblasts reveal an enlarged endoplasmic reticulum net...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2004.08.012

    authors: Paupe V,Gilbert T,Le Merrer M,Munnich A,Cormier-Daire V,El Ghouzzi V

    更新日期:2004-09-01 00:00:00

  • NR0B1A: an alternatively spliced form of NR0B1.

    abstract::The orphan nuclear receptor DAX1 (dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1), encoded by the NR0B1 gene, plays important roles in the development of the hypothalamic-pituitary-adrenal/gonadal (HPAG) axis as well as in sex determination. Mutations in NR0B1 cause the X-linked cytomegal...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2004.10.002

    authors: Ho J,Zhang YH,Huang BL,McCabe ER

    更新日期:2004-12-01 00:00:00

  • Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

    abstract::Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more v...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.06.015

    authors: Hollak CE,de Sonnaville ES,Cassiman D,Linthorst GE,Groener JE,Morava E,Wevers RA,Mannens M,Aerts JM,Meersseman W,Akkerman E,Niezen-Koning KE,Mulder MF,Visser G,Wijburg FA,Lefeber D,Poorthuis BJ

    更新日期:2012-11-01 00:00:00