Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

abstract：:In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of X-linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to beta-galactosidase activity. The ASC/beta-gal ratio of XLI patients is markedly decreased (range 0.07-0.48) in compari...

journal_title：Journal of inherited metabolic disease

authors： Herrmann FH,Grimm U,Hadlich J

更新日期：1987-01-01 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：BACKGROUND:Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiolo...

journal_title：Journal of inherited metabolic disease

authors： Huemer M,Carvalho DR,Brum JM,Ünal Ö,Coskun T,Weisfeld-Adams JD,Schrager NL,Scholl-Bürgi S,Schlune A,Donner MG,Hersberger M,Gemperle C,Riesner B,Ulmer H,Häberle J,Karall D

更新日期：2016-05-01 00:00:00

abstract：:The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-p...

journal_title：Journal of inherited metabolic disease

authors： Coene KLM,Kluijtmans LAJ,van der Heeft E,Engelke UFH,de Boer S,Hoegen B,Kwast HJT,van de Vorst M,Huigen MCDG,Keularts IMLW,Schreuder MF,van Karnebeek CDM,Wortmann SB,de Vries MC,Janssen MCH,Gilissen C,Engel J,Wevers RA

更新日期：2018-05-01 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：:We report on our 6-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false-negative tests are des...

journal_title：Journal of inherited metabolic disease

authors： la Marca G,Malvagia S,Casetta B,Pasquini E,Donati MA,Zammarchi E

更新日期：2008-12-01 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：: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

abstract：:Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases in intermediate-density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein B-100 (apo B) metab...

journal_title：Journal of inherited metabolic disease

authors： Wierzbicki AS,Watt GF,Lynas J,Winder AF,Wray R

更新日期：2001-10-01 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：: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：:Twenty-one patients have been diagnosed with glutaric aciduria type I over a 16-year period in the Republic of Ireland, 11 following clinical presentation and 10 following a high-risk screen. Nineteen have been managed with diet. Eight patients have died, of whom 7 were diagnosed clinically. Six had dystonic and one s...

journal_title：Journal of inherited metabolic disease

authors： Naughten ER,Mayne PD,Monavari AA,Goodman SI,Sulaiman G,Croke DT

更新日期：2004-01-01 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：: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：: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

authors： Fukuda T,Sugie H,Ito M

更新日期：2000-03-01 00:00:00

abstract：:When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features ...

journal_title：Journal of inherited metabolic disease

authors： Wilson C,Knoll D,de Hora M,Kyle C,Glamuzina E,Webster D

更新日期：2019-01-01 00:00:00

abstract：:MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They ...

journal_title：Journal of inherited metabolic disease

authors： Rivera-Barahona A,Pérez B,Richard E,Desviat LR

更新日期：2017-07-01 00:00:00

abstract：:Methylmalonate (MMA) accumulates in the tissues of patients with methylmalonic acidaemia, who present severe neurological signs soon after birth and later mental retardation. Attempting to understand the pathophysiology of the disorder, we investigated the effects of MMA on brain glucose uptake, lactate release and CO...

journal_title：Journal of inherited metabolic disease

authors： Wajner M,Dutra JC,Cardoso SE,Wannmacher CM,Motta ER

更新日期：1992-01-01 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：:Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, whil...

journal_title：Journal of inherited metabolic disease

authors： Olpin SE,Allen J,Bonham JR,Clark S,Clayton PT,Calvin J,Downing M,Ives K,Jones S,Manning NJ,Pollitt RJ,Standing SJ,Tanner MS

更新日期：2001-02-01 00:00:00

abstract：:Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of...

journal_title：Journal of inherited metabolic disease

authors： Conter C,Rolland MO,Cheillan D,Bonnet V,Maire I,Froissart R

更新日期：2006-02-01 00:00:00

abstract：:The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

journal_title：Journal of inherited metabolic disease

authors： Brooks DA

更新日期：1993-01-01 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：:Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

journal_title：Journal of inherited metabolic disease

authors： Parnet JM,Divry P,Vianey-Saban C,Mathieu M

更新日期：1996-01-01 00:00:00

abstract：:We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts an...

journal_title：Journal of inherited metabolic disease

authors： Kiss A,Zen PR,Bittencourt V,Paskulin GA,Giugliani R,d'Azzo A,Schwartz IV

更新日期：2008-12-01 00:00:00

abstract：:Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period ...

journal_title：Journal of inherited metabolic disease

authors： Lund AM,Joensen F,Hougaard DM,Jensen LK,Christensen E,Christensen M,Nørgaard-Petersen B,Schwartz M,Skovby F

更新日期：2007-06-01 00:00:00

abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

journal_title：Journal of inherited metabolic disease

authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

更新日期：2007-04-01 00:00:00

abstract：:Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...

journal_title：Journal of inherited metabolic disease

authors： Candito M,Bedoucha P,Gibelin P,Jambou D,de Franchis R,Sadoul JL,Chatel M,Van Obberghen E

更新日期：1999-06-01 00:00:00

abstract：:Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...

journal_title：Journal of inherited metabolic disease

authors： Montioli R,Cellini B,Borri Voltattorni C

更新日期：2011-12-01 00:00:00

abstract：:The inheritance of Crigler-Najjar type II disease is still contested. Autosomal dominant transmission with incomplete penetrance and autosomal recessive transmission have been proposed. We had the opportunity to study the hepatic activity of bilirubin uridinediphosphate glucuronyltransferase in parents whose first chi...

journal_title：Journal of inherited metabolic disease

authors： Labrune P,Myara A,Hennion C,Gout JP,Trivin F,Odievre M

更新日期：1989-01-01 00:00:00