Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

abstract：OBJECTIVE:Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. DESIGN:Through a systematic review, untreated and ERT treated males and fema...

journal_title：Journal of inherited metabolic disease

authors： Rombach SM,Smid BE,Linthorst GE,Dijkgraaf MG,Hollak CE

更新日期：2014-05-01 00:00:00

abstract：:The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and...

journal_title：Journal of inherited metabolic disease

authors： Braunlin EA,Harmatz PR,Scarpa M,Furlanetto B,Kampmann C,Loehr JP,Ponder KP,Roberts WC,Rosenfeld HM,Giugliani R

更新日期：2011-12-01 00:00:00

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：:Low-density lipoprotein receptor (LDLR) is a cell-surface glycoprotein that mediates specific uptake and catabolism of plasma LDL. Mutations located in the coding region of the LDLR gene affect the structure and function of the protein and cause familial hypercholesterolaemia (FH). Mutations in the regulatory regions ...

journal_title：Journal of inherited metabolic disease

authors： Francová H,Trbusek M,Zapletalová P,Kuhrová V

更新日期：2004-01-01 00:00:00

abstract：:Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical an...

journal_title：Journal of inherited metabolic disease

authors： Levy HL,Vargas JE,Waisbren SE,Kurczynski TW,Roeder ER,Schwartz RS,Rosengren S,Prasad C,Greenberg CR,Gilfix BM,MacGregor D,Shih VE,Bao L,Kraus JP

更新日期：2002-08-01 00:00:00

abstract：:We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by anal...

journal_title：Journal of inherited metabolic disease

authors： Al-Sayed M,Alahmed S,Alsmadi O,Khalil H,Rashed MS,Imtiaz F,Meyer BF

更新日期：2005-01-01 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：:This study aimed to evaluate systematically the effect of the free use of fruits and vegetables containing an intermediate amount of phenylalanine (51-100 mg/100 g) on the biochemical control in children with phenylketonuria (PKU). Fifteen subjects with PKU, with a median age of 6 years (range 1-24 years) were studied...

journal_title：Journal of inherited metabolic disease

authors： MacDonald A,Rylance G,Davies P,Asplin D,Hall SK,Booth IW

更新日期：2003-01-01 00:00:00

abstract：:Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried bl...

journal_title：Journal of inherited metabolic disease

authors： Ohlsson A,Guthenberg C,Holme E,von Döbeln U

更新日期：2010-12-01 00:00:00

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

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

更新日期：1993-01-01 00:00:00

abstract：:Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are general...

journal_title：Journal of inherited metabolic disease

authors： Hwu WL,Chien YH,Lee NC

更新日期：2010-08-01 00:00:00

abstract：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...

journal_title：Journal of inherited metabolic disease

authors： Pope FM,Daw SC,Narcisi P,Richards AR,Nicholls AC

更新日期：1989-01-01 00:00:00

abstract：:Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...

journal_title：Journal of inherited metabolic disease

authors： Kullberg-Lindh C,Hannoun C,Lindh M

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVE:To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. METHODS:This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between Sept...

journal_title：Journal of inherited metabolic disease

authors： Thümler A,Miebach E,Lampe C,Pitz S,Kamin W,Kampmann C,Link B,Mengel E

更新日期：2012-11-01 00:00:00

abstract：:The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebr...

journal_title：Journal of inherited metabolic disease

authors： Gornati R,Berra B,Montorfano G,Martini C,Ciana G,Ferrari P,Romano M,Bembi B

更新日期：2002-02-01 00:00:00

abstract：:Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry...

journal_title：Journal of inherited metabolic disease

authors： Chien YH,Bodamer OA,Chiang SC,Mascher H,Hung C,Hwu WL

更新日期：2013-09-01 00:00:00

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：:Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed r...

journal_title：Journal of inherited metabolic disease

authors： Chen W,Caston R,Balakrishnan B,Siddiqi A,Parmar K,Tang M,Feng M,Lai K

更新日期：2017-01-01 00:00:00

abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

journal_title：Journal of inherited metabolic disease

authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

更新日期：2005-01-01 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：:Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites throu...

journal_title：Journal of inherited metabolic disease

authors： Reijngoud DJ

更新日期：2018-05-01 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：: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：: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

abstract：: ...

journal_title：Journal of inherited metabolic disease

authors： Halai J

更新日期：2018-11-01 00:00:00

abstract：:There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target diso...

journal_title：Journal of inherited metabolic disease

authors： Estrella J,Wilcken B,Carpenter K,Bhattacharya K,Tchan M,Wiley V

更新日期：2014-11-01 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：:A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both bloo...

journal_title：Journal of inherited metabolic disease

authors： Tsuchiyama A,Oyanagi K,Hirano S,Tachi N,Sogawa H,Wagatsuma K,Nakao T,Tsugawa S,Kawamura Y

更新日期：1983-01-01 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：: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