Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.




J Inherit Metab Dis


Brooks ED,Kishnani PS,Koeberl DD





2018-11-01 00:00:00














  • mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

    abstract::Recent studies have identified a role for supraphysiological gamma-aminobutyric acid (GABA) in the regulation of mechanistic target of rapamycin (mTOR), a protein kinase with pleiotropic roles in cellular development and homeostasis, including integration of growth factors and nutrient sensing and synaptic input in ne...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Vogel KR,Ainslie GR,Gibson KM

    更新日期:2016-11-01 00:00:00

  • Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

    abstract::We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Balwani M,Grace ME,Desnick RJ

    更新日期:2011-06-01 00:00:00

  • Symptoms and signs in organic acidurias.

    abstract::Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reac...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Brandt NJ

    更新日期:1984-01-01 00:00:00

  • Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

    abstract::A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malo...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: O'Brien DP,Barshop BA,Faunt KK,Johnson GC,Gibson KM,Shelton GD

    更新日期:1999-12-01 00:00:00

  • Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A disease.

    abstract::Sandhoff disease is caused by the defective activity of the lysosomal enzyme beta-hexosaminidase, resulting in accumulation of the glycolipids, GA2 and GM2. Niemann-Pick A/B disease is caused by the defective activity of lysosomal acid sphingomyelinase resulting in sphingomyelin accumulation. Pulmonary complications h...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Buccoliero R,Ginzburg L,Futerman AH

    更新日期:2004-01-01 00:00:00

  • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

    abstract::In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Loeber JG,Burgard P,Cornel MC,Rigter T,Weinreich SS,Rupp K,Hoffmann GF,Vittozzi L

    更新日期:2012-07-01 00:00:00

  • Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

    abstract::Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

    更新日期:2011-12-01 00:00:00

  • Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease.

    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

    pub_type: 杂志文章


    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

  • Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

    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

    pub_type: 杂志文章


    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

  • LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.

    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

    pub_type: 杂志文章


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

    更新日期:2020-09-01 00:00:00

  • Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

    abstract::5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presente...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Ruijter GJ,Mourad-Baars PE,Ristoff E,Onkenhout W,Poorthuis BJ

    更新日期:2006-08-01 00:00:00

  • DNA damage and its processing. relation to human disease.

    abstract::We are constantly exposed to sources of agents that directly damage the genetic material. This exposure comes from environmental sources but also from within our own organisms. DNA damage occurs at a high frequency due to metabolic processes and environmental factors such as various exposures and the intake of food an...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Bohr VA

    更新日期:2002-05-01 00:00:00

  • Inborn errors of purine and pyrimidine metabolism.

    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

    pub_type: 杂志文章,评审


    authors: Jurecka A

    更新日期:2009-04-01 00:00:00

  • Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

    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

    pub_type: 杂志文章,多中心研究


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

    更新日期:2010-12-01 00:00:00

  • Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

    abstract::Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammator...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Sedel F,Fontaine B,Saudubray JM,Lyon-Caen O

    更新日期:2007-11-01 00:00:00

  • Lesch-Nyhan syndrome: growth delay, testicular atrophy and a partial failure of the 11 beta-hydroxylation of steroids.

    abstract::There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Watts RW,Harkness RA,Spellacy E,Taylor NF

    更新日期:1987-01-01 00:00:00

  • Cognitive dysfunction and depression in Fabry disease: a systematic review.

    abstract:BACKGROUND:Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood. OBJECTIVES:To investigate whether there is reliable evidence...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,meta分析,评审


    authors: Bolsover FE,Murphy E,Cipolotti L,Werring DJ,Lachmann RH

    更新日期:2014-03-01 00:00:00

  • Transport and storage of metals.

    abstract::Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Laurie SH

    更新日期:1983-01-01 00:00:00

  • Intravenous immune globulin in lysinuric protein intolerance.

    abstract::In addition to systemic manifestations with skeletal, pulmonary, renal, and haematological signs, lysinuric protein intolerance (LPI), a membrane transport defect of cationic amino acids, is often complicated by severe life-threatening immunological manifestations. A 10-year-old boy with LPI who exhibited a severe sys...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Dionisi-Vici C,De Felice L,el Hachem M,Bottero S,Rizzo C,Paoloni A,Goffredo B,Sabetta G,Caniglia M

    更新日期:1998-04-01 00:00:00

  • L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

    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

    pub_type: 杂志文章


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

    更新日期:1980-01-01 00:00:00

  • Neurocognitive profiles in MSUD school-age patients.

    abstract::Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varyin...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究


    authors: Bouchereau J,Leduc-Leballeur J,Pichard S,Imbard A,Benoist JF,Abi Warde MT,Arnoux JB,Barbier V,Brassier A,Broué P,Cano A,Chabrol B,Damon G,Gay C,Guillain I,Habarou F,Lamireau D,Ottolenghi C,Paermentier L,Sabourdy F,

    更新日期:2017-05-01 00:00:00

  • Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

    abstract:OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

    更新日期:2014-09-01 00:00:00

  • Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.

    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

    pub_type: 杂志文章


    authors: Fukuda T,Sugie H,Ito M

    更新日期:2000-03-01 00:00:00

  • Cerebral metabolic change after treatment in biotinidase deficiency.

    abstract::A 13.5-year-old boy with biotinidase deficiency was studied 8 days before and 5 months after biotin treatment by positron emission tomography (PET) and computerized electroencephalographic topography (CET). With biotin treatment there was a marked improvement in the presenting symptom of loss of visual acuity and a mo...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Lott IT,Lottenberg S,Nyhan WL,Buchsbaum MJ

    更新日期:1993-01-01 00:00:00

  • The inherited leukodystrophies: a clinical overview.

    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

    pub_type: 杂志文章,评审


    authors: Aicardi J

    更新日期:1993-01-01 00:00:00

  • From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.

    abstract::NTBC is a triketone with herbicidal activity that has been shown to have a novel mode of action by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase in plants. Early studies on the toxicity of this compound found that rats treated with NTBC developed corneal lesions. Investigations aimed at understanding the m...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Lock EA,Ellis MK,Gaskin P,Robinson M,Auton TR,Provan WM,Smith LL,Prisbylla MP,Mutter LC,Lee DL

    更新日期:1998-08-01 00:00:00

  • Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.

    abstract::Eighty-nine protein-loading tests were performed in 80 patients with an increased blood phenylalanine concentration. The amount of protein corresponding to 0.18 g phenylalanine/kg body weight per day was calculated and given for 3 days, during which time eight phenylalanine and eight tyrosine blood concentrations were...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Lutz P,Schmidt H,Frey G,Bickel H

    更新日期:1982-01-01 00:00:00

  • The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

    abstract:BACKGROUND:Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Vernooij-van Langen AM,Loeber JG,Elvers B,Triepels RH,Roefs J,Gille JJ,Reijntjens S,Dompeling E,Dankert-Roelse JE

    更新日期:2013-01-01 00:00:00

  • The X chromosome in development in mouse and man.

    abstract::In mammals, dosage compensation for X-linked genes between males and females is achieved by the inactivation of one of the X chromosomes in females. The inactivation event occurs early in development in all cells of the female mouse embryo and is stable and heritable in somatic cells. However, in the primordial germ c...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Monk M

    更新日期:1992-01-01 00:00:00

  • Congenital disorders of glycosylation (CDG): update and new developments.

    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

    pub_type: 共识发展会议,杂志文章,评审


    authors: Jaeken J

    更新日期:2004-01-01 00:00:00