当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

Abstract：

:Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G>A mutation, and their family members. The lyso-Gb3 levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G>A mutation, lyso-Gb3 levels were elevated and were higher than in age-matched controls. The elevation of lyso-Gb3 levels in males with the IVS4+919G>A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso-Gb3 levels is useful in the diagnosis of Fabry disease, including the later-onset phenotype. The DBS lyso-Gb3 level was not elevated in IVS4+919G>A heterozygotes, and is not useful for their diagnosis. Since lyso-Gb3 levels are elevated from birth in Fabry disease males, "an elevated lyso-Gb3 level" may be of little values for deciding when to begin enzyme replacement therapy.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Chien YH,Bodamer OA,Chiang SC,Mascher H,Hung C,Hwu WL

doi

10.1007/s10545-012-9547-1

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

881-5

issue

5

eissn

0141-8955

issn

1573-2665

journal_volume

36

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.

    abstract：:Neurological manifestations in Lesch-Nyhan disease (LND) are attributed to the effect of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency on the nervous system development. HPRT deficiency causes the excretion of increased amounts of hypoxanthine into the extracellular medium and we hypothesized that H...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-015-9854-4

    authors： Torres RJ,Puig JG

    更新日期：2015-11-01 00:00:00

  • Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

    abstract：:We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentr...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005305614374

    authors： Naito E,Ito M,Yokota I,Saijo T,Matsuda J,Osaka H,Kimura S,Kuroda Y

    更新日期：1997-08-01 00:00:00

  • Diagnosis and management of glutaric aciduria type I.

    abstract：:Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs b...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1005390105171

    authors： Barić I,Zschocke J,Christensen E,Duran M,Goodman SI,Leonard JV,Müller E,Morton DH,Superti-Furga A,Hoffmann GF

    更新日期：1998-06-01 00:00:00

  • 5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case.

    abstract：:We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were h...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01801662

    authors： Haan EA,Rogers JG,Lewis GP,Rowe PB

    更新日期：1985-01-01 00:00:00

  • Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

    abstract：:Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0527-9

    authors： Lund AM,Joensen F,Hougaard DM,Jensen LK,Christensen E,Christensen M,Nørgaard-Petersen B,Schwartz M,Skovby F

    更新日期：2007-06-01 00:00:00

  • 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

    abstract：:A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF02436004

    authors： van Hove JL,Rutledge SL,Nada MA,Kahler SG,Millington DS

    更新日期：1995-01-01 00:00:00

  • Identification of GM2-gangliosidosis B1 variant carriers.

    abstract：:GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 va...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00711518

    authors： Ribeiro MG,Pinto R,Oliveira P,Sá Miranda MC

    更新日期：1993-01-01 00:00:00

  • Free use of fruits and vegetables in phenylketonuria.

    abstract：:This study aimed to evaluate systematically the effect of the free use of fruits and vegetables containing an intermediate amount of phenylalanine (51-100 mg/100 g) on the biochemical control in children with phenylketonuria (PKU). Fifteen subjects with PKU, with a median age of 6 years (range 1-24 years) were studied...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1025150901439

    authors： MacDonald A,Rylance G,Davies P,Asplin D,Hall SK,Booth IW

    更新日期：2003-01-01 00:00:00

  • Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.

    abstract：:We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false-negative tests are des...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0965-z

    authors： la Marca G,Malvagia S,Casetta B,Pasquini E,Donati MA,Zammarchi E

    更新日期：2008-12-01 00:00:00

  • Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

    abstract：:The congenital disorders of glycosylation (CDG) are inborn errors of metabolism with a great genetic heterogeneity. Most CDG are caused by defects in the N-glycan biosynthesis, leading to multisystem phenotypes. However, the occurrence of tissue-restricted clinical symptoms in the various defects in dolichol-phosphate...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12095

    authors： van Tol W,Michelakakis H,Georgiadou E,van den Bergh P,Moraitou M,Papadimas GK,Papadopoulos C,Huijben K,Alsady M,Willemsen MA,Lefeber DJ

    更新日期：2019-09-01 00:00:00

  • The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.

    abstract：:A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000043025.17721.fc

    authors： Michelakakis H,Dimitriou E,Labadaridis I

    更新日期：2004-01-01 00:00:00

  • Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

    abstract：:An infant with glycogen storage disease and prolonged malnourishment showed a urinary organic acid profile during an episode of fasting hypoglycaemia with inappropriate hypoketotic dicarboxylic aciduria that was indistinguishable from that reported in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Although t...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00714277

    authors： Bergoffen J,Kaplan P,Hale DE,Bennett MJ,Berry GT

    更新日期：1993-01-01 00:00:00

  • A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    abstract：:Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9623-1

    authors： Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

    更新日期：2014-01-01 00:00:00

  • Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity.

    abstract：:We measured the activities of two major forms of alpha-glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4-methylumbelliferyl-alpha-D-glucoside as substrate. We found (1) enzyme activity of the pH 4 and pH 6 forms varied with age, and (2) patien...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799482

    authors： Lin CY,Hwang B,Hsiao KJ,Jin YR

    更新日期：1987-01-01 00:00:00

  • Galactose metabolism in transferase-deficient galactosaemic and normal long-term lymphoid cell lines.

    abstract：:The activity (mean +/- SD) of galactose-1-phosphate uridyl transferase in two long-term lymphoid cell lines from Caucasian patients with transferase deficiency galactosaemia, a heterozygote, and eight normal subjects was 0, 78 and 168 +/- 55 nmol UDPG consumed (mg protein)-1h-1, respectively. Also, no activity was fou...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799977

    authors： Beratis NG,Wilbur L

    更新日期：1987-01-01 00:00:00

  • Glycogen storage disease type 1a in three siblings with the G270V mutation.

    abstract：:Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005445802822

    authors： Parvari R,Isam J,Moses SW

    更新日期：1999-04-01 00:00:00

  • Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

    abstract：:Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MP...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9522-x

    authors： Rowan DJ,Tomatsu S,Grubb JH,Montaño AM,Sly WS

    更新日期：2013-03-01 00:00:00

  • Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review.

    abstract：:Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician shou...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01799267

    authors： Northover H,Cowie RA,Wraith JE

    更新日期：1996-01-01 00:00:00

  • Congenital brain anomalies in distal cholesterol biosynthesis defects.

    abstract：:Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfun...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-005-7055-2

    authors： Hennekam RC

    更新日期：2005-01-01 00:00:00

  • Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

    abstract：INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12297

    authors： Hörster F,Tuncel AT,Gleich F,Plessl T,Froese SD,Garbade SF,Kölker S,Baumgartner MR,Additional Contributors from E-IMD.

    更新日期：2021-01-01 00:00:00

  • Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.

    abstract：:Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor 5'-deoxyadenosylcobalamin. The aim of this study was to evaluate which parameters best predicted the long-term outcome. Methods Standardized questionnaires were sen...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-009-1189-6

    authors： Hörster F,Garbade SF,Zwickler T,Aydin HI,Bodamer OA,Burlina AB,Das AM,De Klerk JBC,Dionisi-Vici C,Geb S,Gökcay G,Guffon N,Maier EM,Morava E,Walter JH,Schwahn B,Wijburg FA,Lindner M,Grünewald S,Baumgartner MR,Kölke

    更新日期：2009-10-01 00:00:00

  • Neurocognitive profiles in MSUD school-age patients.

    abstract：:Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varyin...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-017-0033-7

    authors： Bouchereau J,Leduc-Leballeur J,Pichard S,Imbard A,Benoist JF,Abi Warde MT,Arnoux JB,Barbier V,Brassier A,Broué P,Cano A,Chabrol B,Damon G,Gay C,Guillain I,Habarou F,Lamireau D,Ottolenghi C,Paermentier L,Sabourdy F,

    更新日期：2017-05-01 00:00:00

  • Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

    abstract：:A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymp...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000037399.72152.a9

    authors： Dussol B,Ceballos-Picot I,Aral B,Castera V,Philip N,Berland Y

    更新日期：2004-01-01 00:00:00

  • Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

    abstract：:We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9307-7

    authors： Balwani M,Grace ME,Desnick RJ

    更新日期：2011-06-01 00:00:00

  • Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

    abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9698-3

    authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

    更新日期：2014-09-01 00:00:00

  • Inborn errors of purine and pyrimidine metabolism.

    abstract：:Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism. Owing to limited awareness, relatively recent recognition, as well as considerable phenotypic variation, these disord...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-009-1094-z

    authors： Jurecka A

    更新日期：2009-04-01 00:00:00

  • Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia.

    abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1005608113270

    authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

    更新日期：2000-07-01 00:00:00

  • Detoxification pathways in the liver.

    abstract：:The liver plays an important rôle in protecting the organism from potentially toxic chemical insults through its capacity to convert lipophiles into more water-soluble metabolites which can be efficiently eliminated from the body via the urine. This protective ability of the liver stems from the expression of a wide v...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01797915

    authors： Grant DM

    更新日期：1991-01-01 00:00:00

  • Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

    abstract：:Gaucher disease (GD) is an autosomal recessive disorder characterized by defective function of glucocerebrosidase. GD presents a wide spectrum of manifestations, and patients and their relatives may develop neurological abnormalities more frequently than the general population. This study aims to determine the presenc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9298-4

    authors： Giraldo P,Capablo JL,Alfonso P,Garcia-Rodriguez B,Latre P,Irun P,de Cabezon AS,Pocovi M

    更新日期：2011-06-01 00:00:00

  • The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.

    abstract：:Molecular chaperones are present in the various compartments of the cell and assist the folding of newly synthesized proteins. Compared to wild-type proteins, missense mutant proteins are generally synthesized in a normal fashion, but may be impaired in their folding. A broad array of diseases that are due to misfoldi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1010319001722

    authors： Gregersen N,Bross P,Andrese BS,Pedersen CB,Corydon TJ,Bolund L

    更新日期：2001-04-01 00:00:00