当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

Abstract：

:5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presented 3 days after birth with acidosis, and metabolic screening revealed massive excretion of 5-oxoproline. Following recovery, growth and psychomotor development were normal, but 5-oxoprolinuria persisted. Primary defects in the gamma-glutamyl cycle were ruled out since glutathione synthase and 5-oxoprolinase activities were normal. All known secondary causes of 5-oxoprolinuria were also excluded, leaving the basis of the permanent 5-oxoprolinuria in this patient unresolved.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Ruijter GJ,Mourad-Baars PE,Ristoff E,Onkenhout W,Poorthuis BJ

doi

10.1007/s10545-006-0370-4

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

587

issue

4

eissn

0141-8955

issn

1573-2665

journal_volume

29

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • 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

  • Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

    abstract：:Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of it...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-015-9909-6

    authors： Korner G,Scherer T,Adamsen D,Rebuffat A,Crabtree M,Rassi A,Scavelli R,Homma D,Ledermann B,Konrad D,Ichinose H,Wolfrum C,Horsch M,Rathkolb B,Klingenspor M,Beckers J,Wolf E,Gailus-Durner V,Fuchs H,Hrabě de Angelis M,

    更新日期：2016-03-01 00:00:00

  • Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

    abstract：:Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-017-0126-3

    authors： Piraud M,Pettazzoni M,Lavoie P,Ruet S,Pagan C,Cheillan D,Latour P,Vianey-Saban C,Auray-Blais C,Froissart R

    更新日期：2018-05-01 00:00:00

  • Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

    abstract：:Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garro...

    journal_title：Journal of inherited metabolic disease

    pub_type： 传,历史文章,杂志文章,评审

    doi：10.1007/s10545-008-0984-9

    authors： Scriver CR

    更新日期：2008-10-01 00:00:00

  • New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.

    abstract：:Low-density lipoprotein receptor (LDLR) is a cell-surface glycoprotein that mediates specific uptake and catabolism of plasma LDL. Mutations located in the coding region of the LDLR gene affect the structure and function of the protein and cause familial hypercholesterolaemia (FH). Mutations in the regulatory regions ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/B:BOLI.0000037337.93335.c4

    authors： Francová H,Trbusek M,Zapletalová P,Kuhrová V

    更新日期：2004-01-01 00:00:00

  • Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.

    abstract：BACKGROUND:Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however successful pregnancies have been reported. Whether or no...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-012-9490-1

    authors： Sechi A,Deroma L,Lapolla A,Paci S,Melis D,Burlina A,Carubbi F,Rigoldi M,Di Rocco M

    更新日期：2013-01-01 00:00:00

  • Second case of a successful pregnancy in maternal isovaleric acidaemia.

    abstract：:A female patient with isovaleric acidaemia had a successful outcome from pregnancy. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1022837416232

    authors： Spinty S,Rogozinski H,Lealman GT,Wraith JE

    更新日期：2002-12-01 00:00:00

  • Cerebral metabolic change after treatment in biotinidase deficiency.

    abstract：:A 13.5-year-old boy with biotinidase deficiency was studied 8 days before and 5 months after biotin treatment by positron emission tomography (PET) and computerized electroencephalographic topography (CET). With biotin treatment there was a marked improvement in the presenting symptom of loss of visual acuity and a mo...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00710288

    authors： Lott IT,Lottenberg S,Nyhan WL,Buchsbaum MJ

    更新日期：1993-01-01 00:00:00

  • Adenosine, dopamine and serotonin receptors imbalance in lymphocytes of Lesch-Nyhan patients.

    abstract：:Lesch-Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self-injurious behaviour which physiopathology is unknown. These neurological manifestations suggest a dy...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9470-5

    authors： García MG,Puig JG,Torres RJ

    更新日期：2012-11-01 00:00:00

  • Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

    abstract：:Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene from patients with Hunter disease, but the correlation between the genotype and phenotype ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0440-7

    authors： Sukegawa-Hayasaka K,Kato Z,Nakamura H,Tomatsu S,Fukao T,Kuwata K,Orii T,Kondo N

    更新日期：2006-12-01 00:00:00

  • Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

    abstract：:A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates f...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-011-9308-6

    authors： Aerts JM,Kallemeijn WW,Wegdam W,Joao Ferraz M,van Breemen MJ,Dekker N,Kramer G,Poorthuis BJ,Groener JE,Cox-Brinkman J,Rombach SM,Hollak CE,Linthorst GE,Witte MD,Gold H,van der Marel GA,Overkleeft HS,Boot RG

    更新日期：2011-06-01 00:00:00

  • Developing adenoviral-mediated in vivo gene therapy for ornithine transcarbamylase deficiency.

    abstract：:There are a number of reasons for choosing ornithine transcarbamylase (OTC) deficiency as a candidate for gene therapy: the gene has been cloned; the disorder is relatively common; the current clinical outcome is poor; and there are authentic animal models. In considering the development of gene therapy for OTC defici...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005369926784

    authors： Raper SE,Wilson JM,Yudkoff M,Robinson MB,Ye X,Batshaw ML

    更新日期：1998-01-01 00:00:00

  • Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.

    abstract：:A deficiency in phosphorylase kinase is responsible for several forms of glycogen storage disease which differ in heredity and affected tissues. This is so because phosphorylase kinase consists of four different subunits and has multiple tissue-specific isoforms. To elucidate the molecular basis of phosphorylase kinas...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01799500

    authors： Kilimann MW

    更新日期：1990-01-01 00:00:00

  • Next-generation glycogen storage diseases.

    abstract：: ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 社论

    doi：10.1007/s10545-018-00250-0

    authors： Derks TGJ,Oosterveer MH,De Souza CF

    更新日期：2018-11-01 00:00:00

  • X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

    abstract：:Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The cond...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-014-9713-8

    authors： van de Kamp JM,Mancini GM,Salomons GS

    更新日期：2014-09-01 00:00:00

  • 3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

    abstract：:The Mendelian disorder known as 3-methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3-methylgutaconyl-CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical manifestations and subdivide...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799632

    authors： Chitayat D,Chemke J,Gibson KM,Mamer OA,Kronick JB,McGill JJ,Rosenblatt B,Sweetman L,Scriver CR

    更新日期：1992-01-01 00:00:00

  • Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

    abstract：:We report 8 cases of severe cytochrome c oxidase deficiency with onset in the neonatal period. Clinical symptoms were heterogeneous: antenatal cerebral malformations, neurological distress with ketoacidosis, severe myopathy, or isolated respiratory control failure. Lactic acid was elevated in blood and/or CSF in 7 cas...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799256

    authors： Lombes A,Romero NB,Touati G,Frachon P,Cheval MA,Giraud M,Simon D,Ogier de Baulny H

    更新日期：1996-01-01 00:00:00

  • L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

    abstract：:L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat variable, but affected individual...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-008-0855-4

    authors： Sass JO,Jobard F,Topçu M,Mahfoud A,Werlé E,Cure S,Al-Sannaa N,Alshahwan SA,Bataillard M,Cimbalistiene L,Grolik C,Kemmerich V,Omran H,Sztriha L,Tabache M,Fischer J

    更新日期：2008-12-01 00:00:00

  • Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

    abstract：:High lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. Not only does hyperlactataemia cause acute clinical deterioration, but chronic lactate elevations have also been associated with many of the long-term complications in GSD. A portable finger-stick blood lactate m...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0090-1

    authors： Saunders AC,Feldman HA,Correia CE,Weinstein DA

    更新日期：2005-01-01 00:00:00

  • Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.

    abstract：:Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann-Pick A/B disease is caused by the defective activity of lysosomal acid sphingomyelinase resulting in sphingomyelin accumulation. Pulmonary complications h...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000042958.22066.6c

    authors： Buccoliero R,Ginzburg L,Futerman AH

    更新日期：2004-01-01 00:00:00

  • Pathogenic cascades in lysosomal disease-Why so complex?

    abstract：:Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle known as the lysosome. The lysosome is an integral part of the larger endosomal/lysosomal system, and is closely allied with the ubiquitin-proteosomal and autop...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-008-1040-5

    authors： Walkley SU

    更新日期：2009-04-01 00:00:00

  • Large neutral amino acids in the treatment of phenylketonuria (PKU).

    abstract：:Large neutral amino acids (LNAAs) have been used on a limited number of patients with phenylketonuria (PKU) with the purpose of decreasing the influx of phenylalanine (Phe) to the brain. In earlier studies on mice with PKU (ENU(2)/ENU(2)), LNAAs were given and a surprising decline in blood Phe concentrations was obser...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s10545-006-0395-8

    authors： Matalon R,Michals-Matalon K,Bhatia G,Grechanina E,Novikov P,McDonald JD,Grady J,Tyring SK,Guttler F

    更新日期：2006-12-01 00:00:00

  • Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

    abstract：:Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1265-y

    authors： Illsinger S,Lücke T,Hartmann H,Mengel E,Müller-Forell W,Donnerstag F,Das AM

    更新日期：2009-12-01 00:00:00

  • The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies.

    abstract：:Organic acidurias represent a group of inherited disorders resulting from deficient activity of specific enzymes of the catabolism of amino acids, carbohydrates or lipids, leading to tissue accumulation of one or more carboxylic (organic) acids. Patients affected by organic acidurias predominantly present neurological...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/B:BOLI.0000037353.13085.e2

    authors： Wajner M,Latini A,Wyse AT,Dutra-Filho CS

    更新日期：2004-01-01 00:00:00

  • Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

    abstract：BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9803-7

    authors： Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

    更新日期：2015-09-01 00:00:00

  • Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.

    abstract：:Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805595

    authors： Metoki K,Hommes FA,Dyken P,Kelloes C,Trefz J

    更新日期：1984-01-01 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

  • Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

    abstract：OBJECTIVE:To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. METHODS:This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between Sept...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9474-1

    authors： Thümler A,Miebach E,Lampe C,Pitz S,Kamin W,Kampmann C,Link B,Mengel E

    更新日期：2012-11-01 00:00:00

  • A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.

    abstract：:As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-006-0381-1

    authors： Hewlett J,Waisbren SE

    更新日期：2006-10-01 00:00:00

  • The decision to discontinue screening for carnitine uptake disorder in New Zealand.

    abstract：:When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1002/jimd.12030

    authors： Wilson C,Knoll D,de Hora M,Kyle C,Glamuzina E,Webster D

    更新日期：2019-01-01 00:00:00