Epilepsy in mucopolysaccharidosis disorders.

Abstract:

:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic manifestations, including short stature, musculoskeletal abnormalities, and cardiorespiratory dysfunction, and several primary and secondary neurological signs and symptoms. Epileptic seizures are neurological signs of MPS thought to develop due to accumulation of GAGs in the brain, triggering alterations in neuronal connectivity and signaling, and release of inflammatory mediators. The amount of literature on the prevalence, pathophysiology, clinical features, and management of epileptic seizures in patients with MPS is limited. This review discusses current knowledge on this topic, as well as two case examples, presented and discussed during a closed meeting on MPS and the brain among an international group of experts with extensive experience in managing and treating MPS.

journal_name

Mol Genet Metab

authors

Scarpa M,Lourenço CM,Amartino H

doi

10.1016/j.ymgme.2017.10.006

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

55-61

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(17)30502-4

journal_volume

122S

pub_type

杂志文章,评审
  • Propionyl-CoA carboxylase - A review.

    abstract::Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form a hetero-dodecamer. Dysfunction of PCC leads to the inherited metabolic disorder propionic acidemia, which can result in an affected individual present...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2017.10.002

    authors: Wongkittichote P,Ah Mew N,Chapman KA

    更新日期:2017-12-01 00:00:00

  • Mitogen-activated protein kinase phosphatase-1 deficiency decreases atherosclerosis in apolipoprotein E null mice by reducing monocyte chemoattractant protein-1 levels.

    abstract:RATIONALE:We previously reported that mitogen-activated protein kinase phosphatase-1 (MKP-1) expression is necessary for oxidized phospholipids to induce monocyte chemoattractant protein-1 (MCP-1) secretion by human aortic endothelial cells. We also reported that inhibition of tyrosine phosphatases including MKP-1 amel...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.05.009

    authors: Imaizumi S,Grijalva V,Priceman S,Wu L,Su F,Farias-Eisner R,Hama S,Navab M,Fogelman AM,Reddy ST

    更新日期:2010-09-01 00:00:00

  • Essential role of citrate export from mitochondria at early differentiation stage of 3T3-L1 cells for their effective differentiation into fat cells, as revealed by studies using specific inhibitors of mitochondrial di- and tricarboxylate carriers.

    abstract::1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.01.006

    authors: Kajimoto K,Terada H,Baba Y,Shinohara Y

    更新日期:2005-05-01 00:00:00

  • GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.

    abstract::SLC2A2 encoding glucose transporter -2 (GLUT2) acts as the primary glucose transporter and sensor in rodent pancreatic islets and is widely assumed to play a similar role in humans. In healthy adults SLC2A2 variants are associated with elevated fasting plasma glucose (fpg) concentrations but physiological characterisa...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.08.026

    authors: McCulloch LJ,van de Bunt M,Braun M,Frayn KN,Clark A,Gloyn AL

    更新日期:2011-12-01 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

  • Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.

    abstract::Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of the human LH/ chorionic gonadotropin receptor (LHR) and the FSH receptor (FSHR) leading to either constitutive activation or inactivation of the receptors have been identified. All activatin...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1006/mgme.1997.2650

    authors: Chan WY

    更新日期:1998-02-01 00:00:00

  • A large TAT deletion in a tyrosinaemia type II patient.

    abstract::A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at cod...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.05.009

    authors: Legarda M,Wlodarczyk K,Lage S,Andrade F,Kim GJ,Bausch E,Scherer G,Aldamiz-Echevarria LJ

    更新日期:2011-11-01 00:00:00

  • Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

    abstract::We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome anal...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2016.09.001

    authors: Bianciardi L,Imperatore V,Fernandez-Vizarra E,Lopomo A,Falabella M,Furini S,Galluzzi P,Grosso S,Zeviani M,Renieri A,Mari F,Frullanti E

    更新日期:2016-11-01 00:00:00

  • Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

    abstract::Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2007.11.007

    authors: Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

    更新日期:2008-04-01 00:00:00

  • A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

    abstract:OBJECTIVE:To evaluate the safety and explore the efficacy of idursulfase (recombinant human iduronate-2-sulfatase) treatment for mucopolysaccharidosis II (MPS II). STUDY DESIGN:Twelve patients were enrolled into a randomized, double-blind, placebo-controlled trial for 24 weeks followed by an open-label extension study...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.ymgme.2006.09.001

    authors: Muenzer J,Gucsavas-Calikoglu M,McCandless SE,Schuetz TJ,Kimura A

    更新日期:2007-03-01 00:00:00

  • Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

    abstract:PURPOSE:To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. METHODS:Medical records were reviewed. Galactocerebrosidase activity was measured i...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.10.010

    authors: Puckett RL,Orsini JJ,Pastores GM,Wang RY,Chang R,Saavedra-Matiz CA,Torres PA,Zeng B,Caggana M,Lorey F,Abdenur JE

    更新日期:2012-01-01 00:00:00

  • Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

    abstract::This study describes the phenotype/genotype analyses of 56 probands with a juvenile onset, some of which had atypical features of neuronal ceroid lipofuscinosis, collected at the New York State Institute for Basic Research (IBR). In this group, we found probands with abundant curvilinear profiles in lysosomal storage ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.1999.2814

    authors: Wisniewski KE,Kaczmarski A,Kida E,Connell F,Kaczmarski W,Michalewski MP,Moroziewicz DN,Zhong N

    更新日期:1999-04-01 00:00:00

  • Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

    abstract::D-2-hydroxyglutaric aciduria (D-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the D-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of D-2-HGA is defined by the accumulation of abnormal amounts of D-2-hydroxyglutarate in cerebrospinal ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2005.06.005

    authors: Misra VK,Struys EA,O'brien W,Salomons GS,Glover T,Jakobs C,Innis JW

    更新日期:2005-09-01 00:00:00

  • Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

    abstract::In about 20-30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH(4)) administration. The phenylalanine hydroxylase (PAH) genotype has a predictive value concerning BH(4)-response and therefore a correct assessment of the mutation molecular pathology...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.05.013

    authors: Heintz C,Dobrowolski SF,Andersen HS,Demirkol M,Blau N,Andresen BS

    更新日期:2012-08-01 00:00:00

  • Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy.

    abstract::Increased glucose metabolism through the hexosamine pathway may result in insulin resistance, impaired insulin secretion, and diabetic nephropathy. We hypothesized that variants of GFPT1 encoding glutamine-fructose-6-phosphate amidotransferase, the rate limiting enzyme in this pathway, could increase GFPT1 gene expres...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2004.05.004

    authors: Elbein SC,Zheng H,Jia Y,Chu W,Cooper JJ,Hale T,Zhang Z

    更新日期:2004-08-01 00:00:00

  • A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival.

    abstract::Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuro...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2018.09.009

    authors: von Kleist L,Ariunbat K,Braren I,Stauber T,Storch S,Danyukova T

    更新日期:2019-02-01 00:00:00

  • S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.

    abstract::Reported is a female patient with methionine adenosyltransferase I/III (MAT I/III) deficiency, who was found to have pronounced hypermethioninemia on newborn mass spectroscopy screening, and had two compound heterozygous missense mutations in the gene encoding human MAT1A protein. Hypermethioninemia persisted and her ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2011.11.192

    authors: Furujo M,Kinoshita M,Nagao M,Kubo T

    更新日期:2012-03-01 00:00:00

  • Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.

    abstract::The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on d...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.ymgme.2010.07.006

    authors: Moat S,Carling R,Nix A,Henderson M,Briddon A,Prunty H,Talbot R,Powell A,Wright K,Fuchs S,de Koning T

    更新日期:2010-10-01 00:00:00

  • Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

    abstract::Derivatives of 4-methylumbelliferone (4MU) are favorite substrates for the measurement of lysosomal enzyme activities in a wide variety of cell and tissue specimens. Hydrolysis of these artificial substrates at acidic pH leads to the formation of 4-methylumbelliferone, which is highly fluorescent at a pH above 10. Whe...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2010.09.008

    authors: Oemardien LF,Boer AM,Ruijter GJ,van der Ploeg AT,de Klerk JB,Reuser AJ,Verheijen FW

    更新日期:2011-01-01 00:00:00

  • Exclusion of SOX9 as the testis determining factor in Ellobius lutescens: evidence for another testis determining gene besides SRY and SOX9.

    abstract::In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1006/mgme.2000.3105

    authors: Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

    更新日期:2001-01-01 00:00:00

  • RNA-Seq analysis in an avian model of maternal phenylketonuria.

    abstract::Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2018.09.003

    authors: Watson JN,Seagraves NJ

    更新日期:2019-01-01 00:00:00

  • Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

    abstract::Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2008.03.001

    authors: Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

    更新日期:2008-07-01 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

  • 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

  • DAX1 and its network partners: exploring complexity in development.

    abstract::DAX1 encoded by NR0B1, when mutated, is responsible for X-linked adrenal hypoplasia congenita (AHC). AHC is due to failure of the adrenal cortex to develop normally and is fatal if untreated. When duplicated, this gene is associated with an XY sex-reversed phenotype. DAX1 expression is present during development of th...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2003.08.023

    authors: Clipsham R,McCabe ER

    更新日期:2003-09-01 00:00:00

  • Thyroid-stimulating hormone receptor and its role in Graves' disease.

    abstract::The thyroid-stimulating hormone (TSH, or thyrotropin) receptor (TSHR) mediates the activating action of TSH to the thyroid gland, resulting in the growth and proliferation of thyrocytes and thyroid hormone production. In Graves' disease, thyroid-stimulating autoantibodies can mimic TSH action and stimulate thyroid cel...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2003.09.001

    authors: Chistiakov DA

    更新日期:2003-12-01 00:00:00

  • Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

    abstract::Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnos...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2014.07.014

    authors: Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

    更新日期:2014-09-01 00:00:00

  • A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.

    abstract::Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2006.07.012

    authors: Boles RG,Stone ML

    更新日期:2006-12-01 00:00:00

  • Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses.

    abstract::Accumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII), but assessment of the efficacy of treatment c...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审

    doi:10.1016/j.ymgme.2020.02.006

    authors: Kakkis E,Marsden D

    更新日期:2020-05-01 00:00:00

  • Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.

    abstract::Gaucher disease is a prevalent lysosomal storage disease in which affected individuals inherit mutations in the gene (GBA1) encoding lysosomal acid β-glucosidase (glucocerebrosidase, GCase, EC 3.2.1.45). One of the most prevalent disease-causing mutations in humans is a N370S missense mutation in the GCase protein. As...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章

    doi:10.1016/j.ymgme.2012.04.018

    authors: Babajani G,Tropak MB,Mahuran DJ,Kermode AR

    更新日期:2012-07-01 00:00:00