D-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.

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

authors： Vogel KR,Ainslie GR,Gibson KM

更新日期：2016-11-01 00:00:00

abstract：:The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Consortium in 2017, the purpose of this paper is to review the recently d...

journal_title：Journal of inherited metabolic disease

authors： Garbade SF,Zielonka M,Komatsuzaki S,Kölker S,Hoffmann GF,Hinderhofer K,Mountford WK,Mengel E,Sláma T,Mechler K,Ries M

更新日期：2021-01-01 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：: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

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

更新日期：1980-01-01 00:00:00

abstract：OBJECTIVES:To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS:An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10...

journal_title：Journal of inherited metabolic disease

authors： Camelo JS Jr,Fernandes MI,Maciel LM,Scrideli CA,Santos JL,Camargo AS Jr,Passador CS,Leite PC,Resende DR,de Souza LO,Giugliani R,Jorge SM

更新日期：2009-12-01 00:00:00

abstract：:Congenital lactic acidoses form a heterogeneous group of disorders: this paper considers primarily defects of the pyruvate dehydrogenase complex and the respiratory chain. Attempts to treat these disorders are hampered by uncertainty concerning the pathophysiology and by the central role of the enzymes in cellular met...

journal_title：Journal of inherited metabolic disease

authors： Morris AA,Leonard JV

更新日期：1996-01-01 00:00:00

abstract：:Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never in brain. Brain magn...

journal_title：Journal of inherited metabolic disease

authors： Staps P,Rizzo WB,Vaz FM,Bugiani M,Giera M,Heijs B,van Kampen AHC,Pras-Raves ML,Breur M,Groen A,Ferdinandusse S,van der Graaf M,Van Goethem G,Lammens M,Wevers RA,Willemsen MAAP

更新日期：2020-11-01 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：:6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU we...

journal_title：Journal of inherited metabolic disease

authors： Cromby CH,Manning NJ,Pollitt RJ,Powell S,Bennett MJ

更新日期：1994-01-01 00:00:00

abstract：:We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the...

journal_title：Journal of inherited metabolic disease

authors： Tuschl K,Mills PB,Parsons H,Malone M,Fowler D,Bitner-Glindzicz M,Clayton PT

更新日期：2008-04-01 00:00:00

abstract：:Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadeca...

journal_title：Journal of inherited metabolic disease

authors： Besley GT

更新日期：1978-01-01 00:00:00

abstract：:Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scal...

journal_title：Journal of inherited metabolic disease

authors： Nevsímalová S,Elleder M,Smíd F,Zemánková M

更新日期：1984-01-01 00:00:00

abstract：:There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initi...

journal_title：Journal of inherited metabolic disease

authors： Derks TGJ,Peeks F,de Boer F,Fokkert-Wilts M,van der Doef HPJ,van den Heuvel MC,Szymańska E,Rokicki D,Ryan PT,Weinstein DA

更新日期：2020-12-17 00:00:00

abstract：:Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Her...

journal_title：Journal of inherited metabolic disease

authors： Millucci L,Bernardini G,Marzocchi B,Braconi D,Geminiani M,Gambassi S,Laschi M,Frediani B,Galvagni F,Orlandini M,Santucci A

更新日期：2016-11-01 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：INTRODUCTION:Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS:Based on Euroglycan database registration, we approache...

journal_title：Journal of inherited metabolic disease

authors： Morava E,Tiemes V,Thiel C,Seta N,de Lonlay P,de Klerk H,Mulder M,Rubio-Gozalbo E,Visser G,van Hasselt P,Horovitz DDG,de Souza CFM,Schwartz IVD,Green A,Al-Owain M,Uziel G,Sigaudy S,Chabrol B,van Spronsen FJ,Steinert

更新日期：2016-09-01 00:00:00

abstract：:Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be costly and is not yet freely available. L-Alanine, a simple and relative...

journal_title：Journal of inherited metabolic disease

authors： Mundy HR,Williams JE,Cousins AJ,Lee PJ

更新日期：2006-02-01 00:00:00

abstract：:This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, m...

journal_title：Journal of inherited metabolic disease

authors： Fowler B,Schutgens RB,Rosenblatt DS,Smit GP,Lindemans J

更新日期：1997-11-01 00:00:00

abstract：:Morphometry of peroxisomes is performed on electron micrographs of ultrathin sections after staining for catalase activity with diaminobenzidine; specific peroxisomal labelling is preferred to guarantee recognition. Peroxisomal number, size, axial ratio and volume parameters are determined and compared to control valu...

journal_title：Journal of inherited metabolic disease

authors： Kerckaert I,De Craemer D,Van Limbergen G

更新日期：1995-01-01 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：:Fabry disease is an X-linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α-galactosidase A. Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes is an effective treatment. Cross-reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta has b...

journal_title：Journal of inherited metabolic disease

authors： Tanaka A,Takeda T,Hoshina T,Fukai K,Yamano T

更新日期：2010-12-01 00:00:00

abstract：:Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 o...

journal_title：Journal of inherited metabolic disease

authors： Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

更新日期：1996-01-01 00:00:00

abstract：:The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...

journal_title：Journal of inherited metabolic disease

authors： Haas D,Niklowitz P,Hörster F,Baumgartner ER,Prasad C,Rodenburg RJ,Hoffmann GF,Menke T,Okun JG

更新日期：2009-08-01 00:00:00

abstract：:Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

journal_title：Journal of inherited metabolic disease

authors： Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

更新日期：2005-01-01 00:00:00

abstract：:The Mendelian disorder known as 3-methylgutaconic aciduria (McKusick 250950) gives evidence of allelic and locus heterogeneity. Type 1 has a mild clinical phenotype and confirmed 3-methylgutaconyl-CoA hydratase deficiency; inheritance is autosomal recessive. Other forms have major clinical manifestations and subdivide...

journal_title：Journal of inherited metabolic disease

authors： Chitayat D,Chemke J,Gibson KM,Mamer OA,Kronick JB,McGill JJ,Rosenblatt B,Sweetman L,Scriver CR

更新日期：1992-01-01 00:00:00

abstract：:Expanded programmes of newborn screening permit early diagnosis in time to prevent serious complications. These programmes have begun to detect patients who might otherwise remain asymptomatic. An additional confounding variable is the positive screen that results from maternal rather than neonatal disease. This was t...

journal_title：Journal of inherited metabolic disease

authors： Nyhan WL,Willis M,Barshop BA,Gangoiti J

更新日期：2009-12-01 00:00:00

abstract：:Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy. ...

journal_title：Journal of inherited metabolic disease

authors： Wendt S,Whybra C,Kampmann C,Teichmann E,Beck M

更新日期：2005-01-01 00:00:00

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

authors： Buccoliero R,Ginzburg L,Futerman AH

更新日期：2004-01-01 00:00:00

abstract：UNLABELLED:This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND:Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A,Stiburkova B,Krijt J,Gradowska W,Tylki-Szymanska A

更新日期：2010-12-01 00:00:00

abstract：BACKGROUND:Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurolog...

journal_title：Journal of inherited metabolic disease

authors： Manegold C,Hoffmann GF,Degen I,Ikonomidou H,Knust A,Laass MW,Pritsch M,Wilichowski E,Hörster F

更新日期：2009-06-01 00:00:00