当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Long term outcome of MPI-CDG patients on D-mannose therapy.

Long term outcome of MPI-CDG patients on D-mannose therapy.

Abstract：

:Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data were reviewed at diagnosis and on D-mannose treatment. Nine patients were diagnosed with MPI-CDG at a median age of 3 months. The presenting symptoms were diarrhea (n = 9), hepatomegaly (n = 9), hypoglycemia (n = 8), and protein loosing enteropathy (n = 7). All patients survived except the untreated one who died at 2 years of age. Oral D-mannose was started in eight patients at a median age of 7 months (mean 38 months), with a median follow-up on treatment of 14 years 9 months (1.5-20 years). On treatment, two patients developed severe portal hypertension, two developed venous thrombosis, and 1 displayed altered kidney function. Poor compliance with D-mannose was correlated with recurrence of diarrhea, thrombosis, and abnormal biological parameters including coagulation factors and transferrin profiles. Liver fibrosis persisted despite treatment, but two patients showed improved liver architecture during follow-up. This study highlights (i) the efficacy and safety of D-mannose treatment with a median follow-up on treatment of almost 15 years (ii) the need for life-long treatment (iii) the risk of relapse with poor compliance, (iii) the importance of portal hypertension screening (iv) the need to be aware of venous and renal complications in adulthood.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Girard M,Douillard C,Debray D,Lacaille F,Schiff M,Vuillaumier-Barrot S,Dupré T,Fabre M,Damaj L,Kuster A,Torre S,Mention K,McLin V,Dobbelaere D,Borgel D,Bauchard E,Seta N,Bruneel A,De Lonlay P

doi

10.1002/jimd.12289

subject

Has Abstract

pub_date

2020-11-01 00:00:00

pages

1360-1369

issue

6

eissn

0141-8955

issn

1573-2665

journal_volume

43

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • 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

  • Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

    abstract：:Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases in intermediate-density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein B-100 (apo B) metab...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1012407609063

    authors： Wierzbicki AS,Watt GF,Lynas J,Winder AF,Wray R

    更新日期：2001-10-01 00:00:00

  • Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.

    abstract：:Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12025

    authors： Francisco R,Pascoal C,Marques-da-Silva D,Morava E,Gole GA,Coman D,Jaeken J,Dos Reis Ferreira V

    更新日期：2019-01-01 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

  • Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

    abstract：:We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpe...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0871-4

    authors： de Vries MC,Rodenburg RJ,Morava E,Lammens M,van den Heuvel LP,Korenke GC,Smeitink JA

    更新日期：2008-12-01 00:00:00

  • A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.

    abstract：:A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01801717

    authors： Igarashi Y,Otomo H,Narisawa K,Tada K

    更新日期：1980-01-01 00:00:00

  • PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

    abstract：:Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-008-0844-7

    authors： Djouadi F,Bastin J

    更新日期：2008-04-01 00:00:00

  • Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

    abstract：BACKGROUND:Methylmalonic acidemia and intracellular cobalamin metabolism disorders represent a heterogeneous group of inborn errors of metabolism. Most patients will require diagnostic and/or therapeutic procedures frequently requiring sedation or anesthetic management due to neurological and neurocognitive impairments...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-015-9816-x

    authors： Ktena YP,Ramstad T,Baker EH,Sloan JL,Mannes AJ,Manoli I,Venditti CP

    更新日期：2015-09-01 00:00:00

  • A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis.

    abstract：:Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0473-3

    authors： Gu YH,Kodama H,Shiga K,Nakata S,Yanagawa Y,Ozawa H

    更新日期：2005-01-01 00:00:00

  • Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones.

    abstract：:Mucopolysaccharidoses are autosomal and recessive lysosomal storage disorders caused by the deficiency of a lysosomal enzyme involved in glycosaminoglycan catabolism. The Sanfilippo type A disease (MPS III A) results from sulfamidase deficiency, which leads to accumulation of heparan sulfate, whereas Sly disease (MPS ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-9029-2

    authors： Arfi A,Richard M,Gandolphe C,Scherman D

    更新日期：2010-02-01 00:00:00

  • The treatment of congenital lactic acidoses.

    abstract：:Congenital lactic acidoses form a heterogeneous group of disorders: this paper considers primarily defects of the pyruvate dehydrogenase complex and the respiratory chain. Attempts to treat these disorders are hampered by uncertainty concerning the pathophysiology and by the central role of the enzymes in cellular met...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01799117

    authors： Morris AA,Leonard JV

    更新日期：1996-01-01 00:00:00

  • Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

    abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuro...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12219

    authors： Claesen JLA,Koomen E,Schene IF,Jans JJM,Mast N,Pikuleva IA,van der Ham M,de Sain-van der Velden MGM,Fuchs SA

    更新日期：2020-07-01 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

  • Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.

    abstract：UNLABELLED:This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND:Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-9011-z

    authors： Jurecka A,Stiburkova B,Krijt J,Gradowska W,Tylki-Szymanska A

    更新日期：2010-12-01 00:00:00

  • Secondary metabolic changes in fibroblasts from six patients with hereditary lactic acidosis.

    abstract：:Studies on fibroblasts from patients with lactic acidosis of different causes showed secondary metabolic changes in pathways of glucose metabolism. These secondary changes may be important clues to the diagnosis of the many different types of hereditary lactic acidosis. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805587

    authors： Borud O,Strømme JH

    更新日期：1978-01-01 00:00:00

  • 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

    abstract：:6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU we...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00735400

    authors： Cromby CH,Manning NJ,Pollitt RJ,Powell S,Bennett MJ

    更新日期：1994-01-01 00:00:00

  • Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

    abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-4497-5

    authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

    更新日期：2005-01-01 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

  • Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.

    abstract：OBJECTIVES:To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS:An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1112-1

    authors： Camelo JS Jr,Fernandes MI,Maciel LM,Scrideli CA,Santos JL,Camargo AS Jr,Passador CS,Leite PC,Resende DR,de Souza LO,Giugliani R,Jorge SM

    更新日期：2009-12-01 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

  • Regulatory environment for novel therapeutic development in mitochondrial diseases.

    abstract：:At present, there is just one approved therapy for patients with mitochondrial diseases in Europe, another in Japan, and none in the United States. These facts reveal an important and significant unmet need for approved therapies for these debilitating and often fatal disorders. To fill this need, it is critical for c...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1002/jimd.12353

    authors： Hirano M,Berardo A,Barca E,Emmanuele V,Quinzii C,Simpson CV,Engelstad K,Rosales XQ,Thompson JLP

    更新日期：2020-12-24 00:00:00

  • Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.

    abstract：:Mutations in genes encoding metabolic enzymes are often the cause of inherited diseases. Mutations usually affect the ability of proteins to fold properly, thus leading to enzyme loss of function. In this work, we explored the relationships between protein stability, aggregation, and degradation in vitro and inside ce...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-014-9721-8

    authors： Pey AL,Maggi M,Valentini G

    更新日期：2014-11-01 00:00:00

  • S-Adenosylhomocysteine hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase dificiency disease.

    abstract：:S-Adenosylhomocysteine (S-AdoHcy) hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease (ADA(-)LCL) was found to be approximately 60% of that in ADA (+)lymphoblastoid cell lines. S-AdoHcy hydrolase of ADA(-)LCL was more sensitive to inhibition by 2'-deoxyadenosine ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF02263651

    authors： Tsuchiya S,Nakae S,Konno T,Tada K

    更新日期：1981-01-01 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

  • 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

  • D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.

    abstract：:We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should ra...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1024000202364

    authors： Wang X,Jakobs C,Bawle EV

    更新日期：2003-01-01 00:00:00

  • Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques.

    abstract：:It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated levels of uric acid, one of the potent low molecular- weight antioxidants found in plasma. The present communication describes a use of two analytical methods-cycli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1242-5

    authors： Koren E,Lipkin J,Klar A,Hershkovitz E,Ginsburg I,Kohen R

    更新日期：2009-10-01 00:00:00

  • Glycine N -methyltransferase deficiency: a new patient with a novel mutation.

    abstract：:We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to serine. At age 2 years he was found to have mildly elevated serum li...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/B:BOLI.0000009978.17777.33

    authors： Augoustides-Savvopoulou P,Luka Z,Karyda S,Stabler SP,Allen RH,Patsiaoura K,Wagner C,Mudd SH

    更新日期：2003-01-01 00:00:00

  • Familial combined hyperlipidaemia: use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver.

    abstract：:We have assessed very low-density lipoprotein apolipoprotein B production, using [15N]glycine as an endogenous marker in a 9-hour primed constant infusion protocol, in four adult male subjects with familial combined hyperlipidaemia and in four normolipidaemic adult male controls. The mean very low-density lipoprotein ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800473

    authors： Cortner JA,Coates PM,Bennett MJ,Cryer DR,Le NA

    更新日期：1991-01-01 00:00:00

  • Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis.

    abstract：:Cardiovascular lesions, including coronary artery stenosis, are frequently associated and can cause sudden death in patients with genetic defects of glycosaminoglycan (GAG) metabolism. Early diagnosis of coronary artery lesions is difficult, although potentially lifesaving. Histopathological similarities between ather...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9642-y

    authors： Yano S,Moseley K,Wong L,Castelnovi C,Azen C,Pavlova Z

    更新日期：2014-03-01 00:00:00