Reversible infantile mitochondrial diseases.

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：:Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine deple...

journal_title：Journal of inherited metabolic disease

authors： Schiff M,Ogier de Baulny H,Bard G,Barlogis V,Hamel C,Moat SJ,Odent S,Shortland G,Touati G,Giraudier S

更新日期：2010-06-01 00:00:00

abstract：:A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

journal_title：Journal of inherited metabolic disease

authors： Michelakakis H,Dimitriou E,Labadaridis I

更新日期：2004-01-01 00:00:00

abstract：:Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. Many cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. This disease is theoretically corre...

journal_title：Journal of inherited metabolic disease

authors： Bonney DK,O'Meara A,Shabani A,Imrie J,Bigger BW,Jones S,Wraith JE,Wynn RF

更新日期：2010-12-01 00:00:00

abstract：:Employing lymphoblasts derived from two non related patients with L-2-HG aciduria, we examined the origin of L-2-hydroxyglutaric acid (L-2-HG) through incubation with [(13)C6]glucose and [(2)H5]glutamic acid. Formation of labelled 2-ketoglutaric acid (2-KG), citric acid and L-2-HG was determined by GC-MS. The quantita...

journal_title：Journal of inherited metabolic disease

authors： Struys EA,Gibson KM,Jakobs C

更新日期：2007-10-01 00:00:00

abstract：:A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine. ...

journal_title：Journal of inherited metabolic disease

authors： Hargreaves IP,Heales SJ,Briddon A,Lee PJ,Hanna MG,Land JM

更新日期：2003-01-01 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：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

journal_title：Journal of inherited metabolic disease

authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

更新日期：1997-06-01 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

abstract：:Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfun...

journal_title：Journal of inherited metabolic disease

authors： Hennekam RC

更新日期：2005-01-01 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：:Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle known as the lysosome. The lysosome is an integral part of the larger endosomal/lysosomal system, and is closely allied with the ubiquitin-proteosomal and autop...

journal_title：Journal of inherited metabolic disease

authors： Walkley SU

更新日期：2009-04-01 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：:GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 va...

journal_title：Journal of inherited metabolic disease

authors： Ribeiro MG,Pinto R,Oliveira P,Sá Miranda MC

更新日期：1993-01-01 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：: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：: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：:Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity o...

journal_title：Journal of inherited metabolic disease

authors： Hendriksz CJ,Al-Jawad M,Berger KI,Hawley SM,Lawrence R,Mc Ardle C,Summers CG,Wright E,Braunlin E

更新日期：2013-03-01 00:00:00

abstract：:In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...

journal_title：Journal of inherited metabolic disease

authors： Reed T,Cohen Kadosh R

更新日期：2018-07-13 00:00:00

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

authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

更新日期：2000-07-01 00:00:00

abstract：:Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia. ...

journal_title：Journal of inherited metabolic disease

authors： Coşkun T,Ozalp I,Koçak N,Yüce A,Caglar M,Berger R

更新日期：1991-01-01 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：:For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence suggesting its efficacy...

journal_title：Journal of inherited metabolic disease

authors： Khedr M,Cooper MS,Hughes AT,Milan AM,Davison AS,Norman BP,Sutherland H,Jarvis JC,Fitzgerald R,Markinson L,Psarelli EE,Ghane P,Deutz NEP,Gallagher JA,Ranganath LR

更新日期：2020-09-01 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：BACKGROUND:A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospecti...

journal_title：Journal of inherited metabolic disease

authors： Palecek T,Honzikova J,Poupetova H,Vlaskova H,Kuchynka P,Golan L,Magage S,Linhart A

更新日期：2014-05-01 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：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：:Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...

journal_title：Journal of inherited metabolic disease

authors： Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

更新日期：2021-01-01 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