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

abstract：:We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review the literature on mutations in GSD III to understand better the molecular basis of GSD III. In our first case, the homozygous A-to-C mutation at the acceptor site of intron 5 (IVS5-2A > C) ...

journal_title：Journal of inherited metabolic disease

authors： Fukuda T,Sugie H,Ito M

更新日期：2000-03-01 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：: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

authors： Scriver CR

更新日期：2008-10-01 00:00:00

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

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

更新日期：2003-01-01 00:00:00

abstract：:Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are general...

journal_title：Journal of inherited metabolic disease

authors： Hwu WL,Chien YH,Lee NC

更新日期：2010-08-01 00:00:00

abstract：:Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of...

journal_title：Journal of inherited metabolic disease

authors： Chabik G,Litwin T,Członkowska A

更新日期：2014-01-01 00:00:00

abstract：:In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiolo...

journal_title：Journal of inherited metabolic disease

authors： Duarte ST,Ortez C,Pérez A,Artuch R,García-Cazorla A

更新日期：2011-04-01 00:00:00

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

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

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

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

更新日期：1980-01-01 00:00:00

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

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

abstract：:The different long-chain fatty acid oxidation defects present with similar heterogeneous clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver, and skeletal muscles. All symptoms are reversible with sufficient energy supply. In some long-chain fatty acid oxidation defects, disease...

journal_title：Journal of inherited metabolic disease

authors： Spiekerkoetter U

更新日期：2010-10-01 00:00:00

abstract：:Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged...

journal_title：Journal of inherited metabolic disease

authors： Alharbi FJ,Baig S,Auray-Blais C,Boutin M,Ward DG,Wheeldon N,Steed R,Dawson C,Hughes D,Geberhiwot T

更新日期：2018-03-01 00:00:00

abstract：:DNA sequence analyses have become a major component in the diagnostic work-up of patients; however, limited consideration appears to be given to the possibility that reported results may in fact be wrong. Over the last four years we have carried out an External Quality Assessment scheme for mutation analysis in phenyl...

journal_title：Journal of inherited metabolic disease

authors： Zschocke J,Aulehla-Scholz C,Patton S

更新日期：2008-12-01 00:00:00

abstract：OBJECTIVE:Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. DESIGN:Through a systematic review, untreated and ERT treated males and fema...

journal_title：Journal of inherited metabolic disease

authors： Rombach SM,Smid BE,Linthorst GE,Dijkgraaf MG,Hollak CE

更新日期：2014-05-01 00:00:00

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

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

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

journal_title：Journal of inherited metabolic disease

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

更新日期：2002-12-01 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：:To date, inborn errors of neurotransmitters have been defined based on the classic concept of inborn error of metabolism (IEM), and they include defects in synthesis, catabolism, and transport pathways. However, the omics era is bringing insights into new diseases and is leading to an extended definition of IEM includ...

journal_title：Journal of inherited metabolic disease

authors： Tristán-Noguero A,García-Cazorla À

更新日期：2018-11-01 00:00:00

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

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

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：: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

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

abstract：:Animal models of inborn errors of metabolism are useful for investigating the pathogenesis associated with the corresponding human disease. Since the mechanisms involved in the pathophysiology of succinate semialdehyde dehydrogenase (SSADH) deficiency (Aldh5a1; OMIM 271980) are still not established, in the present st...

journal_title：Journal of inherited metabolic disease

authors： Latini A,Scussiato K,Leipnitz G,Gibson KM,Wajner M

更新日期：2007-10-01 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：:Aspartylglycosaminuria (AGU, McKusick 20840) is a metabolic disorder affecting the catabolism of glycoproteins. It was first described in 1967, by Jenner and Pollitt, in two mentally retarded English siblings. Subsequently several cases were reported from Finland (Palo and Mattsson, 1970; Autio, 1972; Autio et al., 19...

journal_title：Journal of inherited metabolic disease

authors： Maury CP

更新日期：1982-01-01 00:00:00

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

authors： Borud O,Strømme JH

更新日期：1978-01-01 00:00:00

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

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

abstract：:Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...

journal_title：Journal of inherited metabolic disease

authors： Kullberg-Lindh C,Hannoun C,Lindh M

更新日期：2002-11-01 00:00:00

abstract：:Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B(2))-derived cofactors are essential for the function of numerous dehydrogenases. Genetic defects of the riboflavin transport have been de...

journal_title：Journal of inherited metabolic disease

authors： Horvath R

更新日期：2012-07-01 00:00:00

abstract：:Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried bl...

journal_title：Journal of inherited metabolic disease

authors： Ohlsson A,Guthenberg C,Holme E,von Döbeln U

更新日期：2010-12-01 00:00:00

abstract：:Until recently, there have not been any confirmed reports of beta-mannosidase deficiency in man. We have now analysed urine from two patients with confirmed beta-mannosidase deficiency and have found Man-beta(1-4)GlcNAc concentrations of 65 and 73 mg/mmol creatinine. These levels are at least 12 times higher than thos...

journal_title：Journal of inherited metabolic disease

authors： Tjoa S,Wenger DA,Fennessey PV

更新日期：1990-01-01 00:00:00