Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

abstract：:This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing som...

journal_title：Journal of inherited metabolic disease

authors： Broomfield AA,Chakrapani A,Wraith JE

更新日期：2010-12-01 00:00:00

abstract：:Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare disorder of bile acid synthesis caused by deficiency of the enzyme sterol 27-hydroxylase. It results in deficiency of bile acids and accumulation of abnormal bile alcohols and accelerated cholesterol synthesis. CTX usually presents in the second or third decad...

journal_title：Journal of inherited metabolic disease

authors： Pierre G,Setchell K,Blyth J,Preece MA,Chakrapani A,McKiernan P

更新日期：2008-12-01 00:00:00

abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset ca...

journal_title：Journal of inherited metabolic disease

authors： Stelten BML,Bonnot O,Huidekoper HH,van Spronsen FJ,van Hasselt PM,Kluijtmans LAJ,Wevers RA,Verrips A

更新日期：2018-07-01 00:00:00

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

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

abstract：:The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Cha...

journal_title：Journal of inherited metabolic disease

authors： le Roux C,Murphy E,Lilburn M,Lee PJ

更新日期：2006-02-01 00:00:00

abstract：:We report studies on two patients (1 and 2) with Hurler disease. They both had all of the non-neurological features of Hurler disease to a similar and extreme degree and similar signs of brain damage on computed tomography. However, intellectual function was unusually well-preserved in patient 1, but seriously and typ...

journal_title：Journal of inherited metabolic disease

authors： Watts RW,Spellacy E,Adams JH

更新日期：1986-01-01 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：: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 congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function, but profound deficits of the 'on-pathway' in the retina. This l...

journal_title：Journal of inherited metabolic disease

authors： Thompson DA,Lyons RJ,Russell-Eggitt I,Liasis A,Jägle H,Grünewald S

更新日期：2013-11-01 00:00:00

abstract：:Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Chall...

journal_title：Journal of inherited metabolic disease

authors： Giugliani R

更新日期：2010-10-01 00:00:00

abstract：:Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MP...

journal_title：Journal of inherited metabolic disease

authors： Rowan DJ,Tomatsu S,Grubb JH,Montaño AM,Sly WS

更新日期：2013-03-01 00:00:00

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

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

更新日期：2005-01-01 00:00:00

abstract：:After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. ...

journal_title：Journal of inherited metabolic disease

authors： Jaeken J

更新日期：2004-01-01 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：: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

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

abstract：:Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional targeted assays is used for the selective screening of those diseases. This...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Beese K,Rüegg C,Plecko B,Hersberger M

更新日期：2020-09-01 00:00:00

abstract：:Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales for parents and teachers as well as a school achievement scale. PKU patients, as a...

journal_title：Journal of inherited metabolic disease

authors： Stemerdink BA,Kalverboer AF,van der Meere JJ,van der Molen MW,Huisman J,de Jong LW,Slijper FM,Verkerk PH,van Spronsen FJ

更新日期：2000-09-01 00:00:00

abstract：:We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by anal...

journal_title：Journal of inherited metabolic disease

authors： Al-Sayed M,Alahmed S,Alsmadi O,Khalil H,Rashed MS,Imtiaz F,Meyer BF

更新日期：2005-01-01 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：: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：: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

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

abstract：:Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

journal_title：Journal of inherited metabolic disease

authors： Farriaux JP,Luyckx AS,Ribet M

更新日期：1980-01-01 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：:Twin brothers were born with clinical symptoms indicating that they were suffering from Zellweger syndrome. However, instead of a generalized peroxisomal dysfunction, only very long-chain fatty acids and the pristanic acid/phytanic acid ratio were elevated in plasma and decreased oxidation of very long-chain fatty aci...

journal_title：Journal of inherited metabolic disease

authors： Christensen E,Pedersen SA,Leth H,Jakobs C,Schutgens RB,Wanders RJ

更新日期：1997-09-01 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：BACKGROUND:Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation disorders (LC-FAODs) but controlled trials have not been reported. Th...

journal_title：Journal of inherited metabolic disease

authors： Gillingham MB,Heitner SB,Martin J,Rose S,Goldstein A,El-Gharbawy AH,Deward S,Lasarev MR,Pollaro J,DeLany JP,Burchill LJ,Goodpaster B,Shoemaker J,Matern D,Harding CO,Vockley J

更新日期：2017-11-01 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：:Patients with Fabry disease frequently develop left ventricular (LV) hypertrophy and renal fibrosis. Due to heat intolerance and an inability to sweat, patients tend to avoid exposure to sunlight. We hypothesized that subsequent vitamin D deficiency may contribute to Fabry cardiomyopathy. This study investigated the v...

journal_title：Journal of inherited metabolic disease

authors： Drechsler C,Schmiedeke B,Niemann M,Schmiedeke D,Krämer J,Turkin I,Blouin K,Emmert A,Pilz S,Obermayer-Pietsch B,Weidemann F,Breunig F,Wanner C

更新日期：2014-03-01 00:00:00

abstract：:We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it c...

journal_title：Journal of inherited metabolic disease

authors： Saraiva JM,Seakins JW,Smith I

更新日期：1993-01-01 00:00:00

abstract：:N-Acetylaspartate (NAA) is an important osmolyte in the vertebrate brain that participates in an intercompartmental metabolic cycle. It is synthesized primarily in neurons from L-aspartate (Asp) and acetyl-CoA and, after its regulated release, it is hydrolysed by aspartoacylase in an oligodendrocyte compartment to pro...

journal_title：Journal of inherited metabolic disease

authors： Baslow MH,Suckow RF,Hungund BL

更新日期：2000-11-01 00:00:00