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

abstract：:Hypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency (McKusick 229700). However, the pathological mechanism of this reactive hypoglycaemia is not fully known. This paper describes two siblings with FDPase deficiency, diagnosed enzymatically i...

journal_title：Journal of inherited metabolic disease

authors： Nagai T,Yokoyama T,Hasegawa T,Tsuchiya Y,Matsuo N

更新日期：1992-01-01 00:00:00

abstract：:Defects in a pathway as complex as the electron transport chain cause a variety of clinical abnormalities, which vary from fatal lactic acidosis in infancy to mild muscle disease in adults. The primary defect may reside in the nucleus or the mitochondrial genome. Until relatively recently, biochemical assays were the ...

journal_title：Journal of inherited metabolic disease

authors： Adams PL,Turnbull DM

更新日期：1996-01-01 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：:Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionist...

journal_title：Journal of inherited metabolic disease

authors： Hohenfellner K,Rauch F,Ariceta G,Awan A,Bacchetta J,Bergmann C,Bechtold S,Cassidy N,Deschenes G,Elenberg E,Gahl WA,Greil O,Harms E,Herzig N,Hoppe B,Koeppl C,Lewis MA,Levtchenko E,Nesterova G,Santos F,Schlingmann K

更新日期：2019-09-01 00:00:00

abstract：:Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

journal_title：Journal of inherited metabolic disease

authors： Martinelli D,Deodato F,Dionisi-Vici C

更新日期：2011-02-01 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：: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：:We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramat...

journal_title：Journal of inherited metabolic disease

authors： Quintana E,Pineda M,Font A,Vilaseca MA,Tort F,Ribes A,Briones P

更新日期：2010-12-01 00:00:00

abstract：:Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in vascular smooth-muscle and endothelial cells. The effect of this accumulation on peripheral and cardiac vascular function is poorly...

journal_title：Journal of inherited metabolic disease

authors： Kalliokoski RJ,Kalliokoski KK,Sundell J,Engblom E,Penttinen M,Kantola I,Raitakari OT,Knuuti J,Nuutila P

更新日期：2005-01-01 00:00:00

abstract：:Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727+/-186 micromol/L (range 484-1,053). Six women had classic histidinaemia (assigned level >700 micromol/L) and the remaining four had mild (atypical) histidina...

journal_title：Journal of inherited metabolic disease

authors： Levy HL,Yu JJ,Waisbren SE

更新日期：2004-01-01 00:00:00

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

authors： Lin CY,Hwang B,Hsiao KJ,Jin YR

更新日期：1987-01-01 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：:The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and...

journal_title：Journal of inherited metabolic disease

authors： Braunlin EA,Harmatz PR,Scarpa M,Furlanetto B,Kampmann C,Loehr JP,Ponder KP,Roberts WC,Rosenfeld HM,Giugliani R

更新日期：2011-12-01 00:00:00

abstract：:Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a bi...

journal_title：Journal of inherited metabolic disease

authors： Goldin E,Imai Y,Kaneski CR,Pentchev PG,Brady RO,Hascall VC

更新日期：1994-01-01 00:00:00

abstract：:Among the many disorders of fatty acid beta-oxidation known today, the disorders of long-chain fatty acid oxidation are the most severe and life-threatening. One remarkable abnormality, not observed in, for instance, medium-chain acyl-CoA dehydrogenase deficiency, is the moderate to severe lactic acidaemia in long-cha...

journal_title：Journal of inherited metabolic disease

authors： Ventura FV,Ruiter JP,IJlst L,de Almeida IT,Wanders RJ

更新日期：1998-08-01 00:00:00

abstract：:Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian fai...

journal_title：Journal of inherited metabolic disease

authors： Kaufman FR,Donnell GN,Roe TF,Kogut MD

更新日期：1986-01-01 00:00:00

abstract：:Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism. Owing to limited awareness, relatively recent recognition, as well as considerable phenotypic variation, these disord...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A

更新日期：2009-04-01 00:00:00

abstract：:Glutaric aciduria type 1 (GA1) is an inborn error of lysine degradation characterized by acute encephalopathy that is caused by toxic accumulation of lysine degradation intermediates. We investigated the efficacy of substrate reduction through inhibition of 2-aminoadipic semialdehyde synthase (AASS), an enzyme upstrea...

journal_title：Journal of inherited metabolic disease

authors： Leandro J,Dodatko T,DeVita RJ,Chen H,Stauffer B,Yu C,Houten SM

更新日期：2020-11-01 00:00:00

abstract：:Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry. ...

journal_title：Journal of inherited metabolic disease

authors： Baykal T,Karaaslan I,Gokcay G,Demir F,Laleli Y,Demirkol M

更新日期：2004-01-01 00:00:00

abstract：:One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literat...

journal_title：Journal of inherited metabolic disease

authors： van Spronsen FJ

更新日期：2011-06-01 00:00:00

abstract：:Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly assoc...

journal_title：Journal of inherited metabolic disease

authors： Sharman R,Sullivan KA,Young RM,McGill JJ

更新日期：2010-12-01 00:00:00

abstract：:We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretio...

journal_title：Journal of inherited metabolic disease

authors： Law LK,Tang NL,Hui J,Lam CW,Fok TF

更新日期：2003-01-01 00:00:00

abstract：:3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine metabolism. The disease is caused by mutations in the gene coding for 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL). To date 26 different mutations have been described. A (betaalpha)(8) TIM barrel...

journal_title：Journal of inherited metabolic disease

authors： Mir C,Lopez-Viñas E,Aledo R,Puisac B,Rizzo C,Dionisi-Vici C,Deodato F,Pié J,Gomez-Puertas P,Hegardt FG,Casals N

更新日期：2006-02-01 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：: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

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

更新日期：1984-01-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of bioc...

journal_title：Journal of inherited metabolic disease

authors： Wood TC,Harvey K,Beck M,Burin MG,Chien YH,Church HJ,D'Almeida V,van Diggelen OP,Fietz M,Giugliani R,Harmatz P,Hawley SM,Hwu WL,Ketteridge D,Lukacs Z,Miller N,Pasquali M,Schenone A,Thompson JN,Tylee K,Yu C,Hendri

更新日期：2013-03-01 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：: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：:The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leuko...

journal_title：Journal of inherited metabolic disease

authors： Aicardi J

更新日期：1993-01-01 00:00:00

abstract：:Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries pr...

journal_title：Journal of inherited metabolic disease

authors： Ghiasvand NM,Aledavood A,Ghiasvand R,Seyedin Borojeny F,Aledavood AR,Seyed S,Miner W,Saeb Taheri GR

更新日期：2009-12-01 00:00:00