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

abstract：:We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which we...

journal_title：Journal of inherited metabolic disease

authors： Grünewald S,De Vos R,Jaeken J

更新日期：2003-01-01 00:00:00

abstract：:We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver impairment, hypothyroidism a...

journal_title：Journal of inherited metabolic disease

authors： Shanti B,Silink M,Bhattacharya K,Howard NJ,Carpenter K,Fietz M,Clayton P,Christodoulou J

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. ...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Abela L,Albersen M,Bürer C,Crowther L,Beese K,Hartmann H,Bok LA,Struys E,Papuc SM,Rauch A,Hersberger M,Verhoeven-Duif NM,Plecko B

更新日期：2016-09-01 00:00:00

abstract：:The introduction of tandem mass spectrometry has unquestionably been the most striking recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders, making it possible to screen for some disorders that might otherwise have seemed too rare. Current screening is f...

journal_title：Journal of inherited metabolic disease

authors： Wilcken B

更新日期：2007-04-01 00:00:00

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

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

abstract：:A patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiri...

journal_title：Journal of inherited metabolic disease

authors： Baykal T,Gokcay GH,Ince Z,Dantas MF,Fowler B,Baumgartner MR,Demir F,Can G,Demirkol M

更新日期：2005-01-01 00:00:00

abstract：:Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most comm...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Pavlova Z

更新日期：2009-12-01 00:00:00

abstract：:Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

journal_title：Journal of inherited metabolic disease

authors： Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

更新日期：2008-12-01 00:00:00

abstract：:In recent years tremendous progress has been made with respect to the enzymology of the mitochondrial fatty acid beta-oxidation machinery and defects therein. Firstly, a number of new mitochondrial beta-oxidation enzymes have been identified, including very-long-chain acyl-CoA dehydrogenase (VLCAD) and mitochondrial t...

journal_title：Journal of inherited metabolic disease

authors： Wanders RJ,Vreken P,den Boer ME,Wijburg FA,van Gennip AH,IJlst L

更新日期：1999-06-01 00:00:00

abstract：:Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites throu...

journal_title：Journal of inherited metabolic disease

authors： Reijngoud DJ

更新日期：2018-05-01 00:00:00

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

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

更新日期：2001-04-01 00:00:00

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

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

abstract：:Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, ge...

journal_title：Journal of inherited metabolic disease

authors： Mitsubuchi H,Matsuda I,Nobukuni Y,Heidenreich R,Indo Y,Endo F,Mallee J,Segal S

更新日期：1992-01-01 00:00:00

abstract：:Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more ob...

journal_title：Journal of inherited metabolic disease

authors： Wilcken B

更新日期：2010-10-01 00:00:00

abstract：:The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...

journal_title：Journal of inherited metabolic disease

authors： Chalmers RA

更新日期：1984-01-01 00:00:00

abstract：INTRODUCTION:Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS:Based on Euroglycan database registration, we approache...

journal_title：Journal of inherited metabolic disease

authors： Morava E,Tiemes V,Thiel C,Seta N,de Lonlay P,de Klerk H,Mulder M,Rubio-Gozalbo E,Visser G,van Hasselt P,Horovitz DDG,de Souza CFM,Schwartz IVD,Green A,Al-Owain M,Uziel G,Sigaudy S,Chabrol B,van Spronsen FJ,Steinert

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

journal_title：Journal of inherited metabolic disease

authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

更新日期：2007-04-01 00:00:00

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

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

abstract：:By using ion-exchange chromatography and gas chromatography coupled with mass spectrometry, the content of phenylalanine, tyrosine and their metabolites typical of phenylketonuria (PKU) was determined in the cerebrospinal fluid (CSF) of 8 untreated children with classical PKU and 9 controls. At the same time, plasma a...

journal_title：Journal of inherited metabolic disease

authors： Antoshechkin AG,Chentsova TV,Tatur VYu,Naritsin DB,Railian GP

更新日期：1991-01-01 00:00:00

abstract：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...

journal_title：Journal of inherited metabolic disease

authors： Pope FM,Daw SC,Narcisi P,Richards AR,Nicholls AC

更新日期：1989-01-01 00:00:00

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

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

abstract：:A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine (3.3-7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2-year-old children. There was a severe ana...

journal_title：Journal of inherited metabolic disease

authors： Duran M,Kamerling JP,Bakker HD,van Gennip AH,Wadman SK

更新日期：1980-01-01 00:00:00

abstract：:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (EC 1.1.1.178) deficiency is a recently described defect of isoleucine catabolism. The disorder is characterized by normal early development followed by a progressive loss of mental and motor skills. Deterioration may be rapid or may follow a slower decline with a possible s...

journal_title：Journal of inherited metabolic disease

authors： Olpin SE,Pollitt RJ,McMenamin J,Manning NJ,Besley G,Ruiter JP,Wanders RJ

更新日期：2002-10-01 00:00:00

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 ...

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

更新日期：2020-11-01 00:00:00

abstract：:Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never in brain. Brain magn...

journal_title：Journal of inherited metabolic disease

authors： Staps P,Rizzo WB,Vaz FM,Bugiani M,Giera M,Heijs B,van Kampen AHC,Pras-Raves ML,Breur M,Groen A,Ferdinandusse S,van der Graaf M,Van Goethem G,Lammens M,Wevers RA,Willemsen MAAP

更新日期：2020-11-01 00:00:00

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

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

更新日期：2014-03-01 00:00:00

abstract：:Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI ...

journal_title：Journal of inherited metabolic disease

authors： Hayasaka K,Narisawa K,Ohura T,Ogawa E,Dahl HH

更新日期：1990-01-01 00:00:00

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

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

abstract：:We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G...

journal_title：Journal of inherited metabolic disease

authors： Hirono H,Shoji Y,Takahashi T,Sato W,Takeda E,Nishijo T,Kuroda Y,Nishigaki T,Inui K,Takada G

更新日期：1998-12-01 00:00:00

abstract：:Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...

journal_title：Journal of inherited metabolic disease

authors： Candito M,Bedoucha P,Gibelin P,Jambou D,de Franchis R,Sadoul JL,Chatel M,Van Obberghen E

更新日期：1999-06-01 00:00:00