Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.

abstract：:Concentrations of free dolichol, total non-phosphorylated dolichol, and total phosphorylated dolichol were measured in autopsy specimens of brain and liver from ceroid-lipofuscinosis (CL) and control cases. Levels of non-phosphorylated dolichol, mainly as free dolichol, were increased approximately two-fold in late-in...

journal_title：Journal of inherited metabolic disease

authors： Hall NA,Patrick AD

更新日期：1985-01-01 00:00:00

abstract：:A survey is given of literature reports on the effect of performance in offspring from 26 maternal PKU pregnancies treated prior to conception. The survey includes two women who were referred to us for genetic counselling because they had both given birth to microcephalic, mentally retarded children. The women were di...

journal_title：Journal of inherited metabolic disease

authors： Güttler F,Lou H,Andresen J,Kok K,Mikkelsen I,Nielsen KB,Nielsen JB

更新日期：1990-01-01 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：: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：OBJECTIVE:There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) durin...

journal_title：Journal of inherited metabolic disease

authors： Koene S,Hendriks JCM,Dirks I,de Boer L,de Vries MC,Janssen MCH,Smuts I,Fung CW,Wong VCN,de Coo IRFM,Vill K,Stendel C,Klopstock T,Falk MJ,McCormick EM,McFarland R,de Groot IJM,Smeitink JAM

更新日期：2016-09-01 00:00:00

abstract：:Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in beta-mannosidosis. Metabolic labelling studies using [3H] mannose demonstrated accumulation of Man beta 1-4GlcNAc in culture...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton CE,Thornley M,Sardharwalla IB

更新日期：1990-01-01 00:00:00

abstract：:Cystathionine beta synthase (CBS) deficiency is a recessive inborn error of metabolism characterized by elevated serum total homocysteine (tHcy). Betaine supplementation, which can lower tHcy by stimulating homocysteine remethylation to methionine, is often given to CBS deficient patients in combination with other tre...

journal_title：Journal of inherited metabolic disease

authors： Gupta S,Wang L,Kruger WD

更新日期：2016-01-01 00:00:00

abstract：:We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both met...

journal_title：Journal of inherited metabolic disease

authors： Jansen EE,Vogel KR,Salomons GS,Pearl PL,Roullet JB,Gibson KM

更新日期：2016-11-01 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：:Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician. ...

journal_title：Journal of inherited metabolic disease

authors： Balgobind B,Wittebol-Post D,Frenkel J

更新日期：2005-01-01 00:00:00

abstract：:The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spont...

journal_title：Journal of inherited metabolic disease

authors： Clayton PT,Winchester BG,Keir G

更新日期：1992-01-01 00:00:00

abstract：:Optimum conditions for assay of human plasma beta-mannosidase activity were determined. Maximum activity was observed at pH 3.0-3.4, the apparent Km was 0.9 mmol L-1 and enzymatic hydrolysis was linear for at least 60 min. Assays were performed on plasma from two siblings with the recently described condition beta-man...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton C,Sardharwalla IB

更新日期：1987-01-01 00:00:00

abstract：:What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components of the phenome (transcriptome, metabolome, proteome, etc.). The phenome, its layers, and its n...

journal_title：Journal of inherited metabolic disease

authors： Scriver CR

更新日期：2004-01-01 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：:We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentr...

journal_title：Journal of inherited metabolic disease

authors： Naito E,Ito M,Yokota I,Saijo T,Matsuda J,Osaka H,Kimura S,Kuroda Y

更新日期：1997-08-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay,...

journal_title：Journal of inherited metabolic disease

authors： Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

更新日期：2015-09-01 00:00:00

abstract：:A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymp...

journal_title：Journal of inherited metabolic disease

authors： Dussol B,Ceballos-Picot I,Aral B,Castera V,Philip N,Berland Y

更新日期：2004-01-01 00:00:00

abstract：:A brief outline of the known biochemical roles of manganese and chromium is given before the problems of determining human trace metal status are discussed. The factors predisposing to trace metal deficiency are reviewed but particular emphasis is placed upon those which alter the bioavailability of essential trace me...

journal_title：Journal of inherited metabolic disease

authors： Aggett PJ,Davies NT

更新日期：1983-01-01 00:00:00

abstract：:Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including s...

journal_title：Journal of inherited metabolic disease

authors： Yuzyuk T,Viau K,Andrews A,Pasquali M,Longo N

更新日期：2018-03-01 00:00:00

abstract：:Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

journal_title：Journal of inherited metabolic disease

authors： Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

更新日期：2001-12-01 00:00:00

abstract：:The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of beta-oxidation; (3) defects of the Krebs...

journal_title：Journal of inherited metabolic disease

authors： DiMauro S,Bonilla E,Zeviani M,Servidei S,DeVivo DC,Schon EA

更新日期：1987-01-01 00:00:00

abstract：:There are a number of reasons for choosing ornithine transcarbamylase (OTC) deficiency as a candidate for gene therapy: the gene has been cloned; the disorder is relatively common; the current clinical outcome is poor; and there are authentic animal models. In considering the development of gene therapy for OTC defici...

journal_title：Journal of inherited metabolic disease

authors： Raper SE,Wilson JM,Yudkoff M,Robinson MB,Ye X,Batshaw ML

更新日期：1998-01-01 00:00:00

abstract：:Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutation...

journal_title：Journal of inherited metabolic disease

authors： Ida H,Rennert OM,Kawame H,Maekawa K,Eto Y

更新日期：1997-03-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 4...

journal_title：Journal of inherited metabolic disease

authors： Claerhout H,Witters P,Régal L,Jansen K,Van Hoestenberghe MR,Breckpot J,Vermeersch P

更新日期：2018-01-01 00:00:00

abstract：:Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined im...

journal_title：Journal of inherited metabolic disease

authors： Trakadis YJ,Alfares A,Bodamer OA,Buyukavci M,Christodoulou J,Connor P,Glamuzina E,Gonzalez-Fernandez F,Bibi H,Echenne B,Manoli I,Mitchell J,Nordwall M,Prasad C,Scaglia F,Schiff M,Schrewe B,Touati G,Tchan MC,Varet B

更新日期：2014-05-01 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：:Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...

journal_title：Journal of inherited metabolic disease

authors： Saudubray JM,Ogier H,Bonnefont JP,Munnich A,Lombes A,Hervé F,Mitchel G,Thé BP,Specola N,Parvy P

更新日期：1989-01-01 00:00:00

abstract：:Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician shou...

journal_title：Journal of inherited metabolic disease

authors： Northover H,Cowie RA,Wraith JE

更新日期：1996-01-01 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：INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and ...

journal_title：Journal of inherited metabolic disease

authors： Hörster F,Tuncel AT,Gleich F,Plessl T,Froese SD,Garbade SF,Kölker S,Baumgartner MR,Additional Contributors from E-IMD.

更新日期：2021-01-01 00:00:00