当前位置： SCI文献检索 > MOLECULAR GENETICS AND METABOLISM期刊下所有文献 > Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Abstract：

:Tandem mass spectrometry (MS/MS) has been introduced in several newborn screening programs for the detection of a large number of inborn errors of metabolism, including fatty acid oxidation disorders (FAOD). Early identification and treatment of FAOD have the potential to improve outcome and may be life-saving in some cases; an estimated 5% of sudden infant deaths are attributable to undiagnosed disorders of fatty acid oxidation. We report very early neonatal presentations of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (TFP) deficiencies confirmed by molecular analysis. Both patients had cardiorespiratory collapse and hypoglycemia, without a history of maternal pregnancy complications. Retrospective MS/MS analysis of the original newborn screening blood spots revealed characteristic acylcarnitine profiles. These cases are among the earliest reported presentations of LCHAD and TFP deficiencies and further illustrate the potential of MS/MS as a valuable tool for newborn screening of FAOD. However, timely analysis and reporting of results to clinicians are essential, because these disorders can manifest in the first few days of life.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Hintz SR,Matern D,Strauss A,Bennett MJ,Hoyme HE,Schelley S,Kobori J,Colby C,Lehman NL,Enns GM

doi

10.1006/mgme.2001.3282

subject

Has Abstract

pub_date

2002-02-01 00:00:00

pages

120-7

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096719201932822

journal_volume

75

pub_type

杂志文章

相关文献

MOLECULAR GENETICS AND METABOLISM文献大全
  • Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

    abstract：:We report the clinical course and biochemical findings of a 10-year-old, mentally retarded girl with late-onset holocarboxylase synthetase (HCS, gene symbol HLCS) deficiency and only partial response to biotin. On treatment, even with an unusually high dose of 200mg/day, activities of the biotin-dependent mitochondria...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/s1096-7192(03)00091-x

    authors： Santer R,Muhle H,Suormala T,Baumgartner ER,Duran M,Yang X,Aoki Y,Suzuki Y,Stephani U

    更新日期：2003-07-01 00:00:00

  • Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

    abstract：:Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochondrial DNA depletion syndrome (MDDS). Currently, only point mutations a...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2009.09.003

    authors： Zhang S,Li FY,Bass HN,Pursley A,Schmitt ES,Brown BL,Brundage EK,Mardach R,Wong LJ

    更新日期：2010-01-01 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

  • Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

    abstract：BACKGROUND:Treatment of Fabry disease (FD) with recombinant alpha-galactosidase A (r-αGAL A) is complicated by the formation of anti-drug antibodies in the majority of male patients with the classical disease phenotype. Detailed information regarding antibody subtypes, onset and persistence of antibody development and ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2018.11.008

    authors： van der Veen SJ,van Kuilenburg ABP,Hollak CEM,Kaijen PHP,Voorberg J,Langeveld M

    更新日期：2019-02-01 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

  • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

    abstract：:Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge. The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/s1096-7192(02)00229-9

    authors： Spaapen LJ,Rubio-Gozalbo ME

    更新日期：2003-02-01 00:00:00

  • Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

    abstract：:Phenotypic expression of the deafness-associated mitochondrial A1555G mutation in the 12S rRNA gene is influenced by aminoglycosides and complex inheritance of nuclear-encoded modifier genes. The position of a major nuclear modifier gene has been localized to chromosome 8p23.1, but the identification of this gene has ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2004.07.009

    authors： Bykhovskaya Y,Mengesha E,Wang D,Yang H,Estivill X,Shohat M,Fischel-Ghodsian N

    更新日期：2004-11-01 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

  • The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

    abstract：:Suppression therapy utilizes compounds that suppress translation termination at in-frame premature termination codons (PTCs) to restore full-length, functional protein. This approach may provide a treatment for diseases caused by nonsense mutations such as mucopolysaccharidosis type I-Hurler (MPS I-H). MPS I-H is a ly...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2011.10.005

    authors： Wang D,Belakhov V,Kandasamy J,Baasov T,Li SC,Li YT,Bedwell DM,Keeling KM

    更新日期：2012-01-01 00:00:00

  • Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.

    abstract：:Carnitine-acylcarnitine translocase (CATR) deficiency is a severe defect in fatty acid oxidation which presents early in life most frequently with hypoglycemia, hyperammonemia, and severe cardiac abnormalities. CATR exchanges acylcarnitines of various chain lengths for free carnitine across the mitochondrial membrane....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2950

    authors： Roe DS,Roe CR,Brivet M,Sweetman L

    更新日期：2000-01-01 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

  • 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 analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

    abstract：:Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2012.02.002

    authors： Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

    更新日期：2012-04-01 00:00:00

  • The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes.

    abstract：:The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.3005

    authors： Fernández-Moreno MA,Bornstein B,Campos Y,Arenas J,Garesse R

    更新日期：2000-07-01 00:00:00

  • Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

    abstract：:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by se...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2015.09.010

    authors： Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

    更新日期：2015-11-01 00:00:00

  • Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test.

    abstract：:BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of norm...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.07.013

    authors： Okano Y,Takatori K,Kudo S,Sakaguchi T,Asada M,Kajiwara M,Yamano T

    更新日期：2007-12-01 00:00:00

  • Extended [13C]galactose oxidation studies in patients with galactosemia.

    abstract：:Since patients with galactose-1-phosphate uridyltransferase (GALT) deficiency have considerable endogenous galactose formation and only limited urinary excretion of galactose metabolites, there must be mechanisms for disposal of the sugar. Otherwise, a steady-state could not be maintained and there would be continuous...

    journal_title：Molecular genetics and metabolism

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.ymgme.2004.03.003

    authors： Berry GT,Reynolds RA,Yager CT,Segal S

    更新日期：2004-06-01 00:00:00

  • Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

    abstract：:Bloom syndrome is more common in individuals of Ashkenazi Jewish descent than in any other population, and one particular mutation in the Bloom syndrome gene, blmAsh, is homozygous in nearly all Ashkenazi Jewish persons with Bloom syndrome. We have determined the frequency of blmAsh in 1491 Ashkenazi Jewish persons wi...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2733

    authors： Li L,Eng C,Desnick RJ,German J,Ellis NA

    更新日期：1998-08-01 00:00:00

  • Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population.

    abstract：:Neural tube defects (NTDs) are multifactorial in their etiology, having both genetic and environmental factors contributing to their development. Recent evidence demonstrates that periconceptional supplementation of the maternal diet with a multivitamin containing folic acid significantly reduces the occurrence and re...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.2000.2991

    authors： Barber R,Shalat S,Hendricks K,Joggerst B,Larsen R,Suarez L,Finnell R

    更新日期：2000-05-01 00:00:00

  • C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.

    abstract：:In utero cocaine exposure can affect CNS development. Previous studies showed that cocaine inhibits neuronal differentiation in a dose-dependent fashion, in nerve growth factor (NGF)-stimulated PC12 cells, without affecting cell viability. NGF activates intracellular signaling proteins, specific immediate-early genes ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1998.2699

    authors： Zachor DA,Moore JF,Jin J,Theibert AB,Percy AK

    更新日期：1998-05-01 00:00:00

  • The functions of RPS19 and their relationship to Diamond-Blackfan anemia: a review.

    abstract：:The relatively new study of ribosomal proteins has allowed for greater understanding of protein synthesis; however the connection between ribosomal proteins' roles and that of disease pathophysiology has not yet been established. RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia whose functions have begun...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章,评审

    doi：10.1016/j.ymgme.2006.11.004

    authors： Morimoto K,Lin S,Sakamoto K

    更新日期：2007-04-01 00:00:00

  • Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    abstract：:We describe the treatment, the clinical, and biochemical findings and the outcome of 26 patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency and 10 patients with dihydropteridine reductase (DHPR) deficiency. These are the two most common forms of the autosomal-recessively inherited tetrahydrobiopterin ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.10.004

    authors： Jäggi L,Zurflüh MR,Schuler A,Ponzone A,Porta F,Fiori L,Giovannini M,Santer R,Hoffmann GF,Ibel H,Wendel U,Ballhausen D,Baumgartner MR,Blau N

    更新日期：2008-03-01 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

  • The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

    abstract：:The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2008.04.004

    authors： Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

    更新日期：2008-08-01 00:00:00

  • A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

    abstract：:Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2017.06.013

    authors： Frisso G,Gelzo M,Procopio E,Sica C,Lenza MP,Dello Russo A,Donati MA,Salvatore F,Corso G

    更新日期：2017-08-01 00:00:00

  • Telomere length elongation after weight loss intervention in obese adults.

    abstract：INTRODUCTION:Telomeres may be considered markers of biological aging, shorter telomere length is associated with some age-related diseases; in several studies short telomere length has also been associated to obesity in adults and adolescents. However the relationship between telomere complex functions and obesity is s...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2016.04.003

    authors： Carulli L,Anzivino C,Baldelli E,Zenobii MF,Rocchi MB,Bertolotti M

    更新日期：2016-06-01 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

  • Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.

    abstract：:Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI) pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this study the effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase (rh4S) on DJD was examined....

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1016/j.ymgme.2007.04.009

    authors： Auclair D,Hopwood JJ,Lemontt JF,Chen L,Byers S

    更新日期：2007-08-01 00:00:00

  • Investigation of Batten disease with the yeast Saccharomyces cerevisiae.

    abstract：:The CLN3 gene, which encodes the protein whose absence is responsible for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995. The function of the protein, Cln3p, still remains elusive. We previously cloned the Saccharomyces cerevisiae homolog to the human CLN3 ...

    journal_title：Molecular genetics and metabolism

    pub_type： 杂志文章

    doi：10.1006/mgme.1999.2820

    authors： Pearce DA,Sherman F

    更新日期：1999-04-01 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