Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

abstract：:Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most comm...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Pavlova Z

更新日期：2009-12-01 00:00:00

abstract：:Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia. ...

journal_title：Journal of inherited metabolic disease

authors： Coşkun T,Ozalp I,Koçak N,Yüce A,Caglar M,Berger R

更新日期：1991-01-01 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：: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：:Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such as transketolase (TKT), are incompatible with mammalian cell survival, mice lacking TAL are viable and develop progressive liver disease attr...

journal_title：Journal of inherited metabolic disease

authors： Oaks Z,Jimah J,Grossman CC,Beckford M,Kelly R,Banerjee S,Niland B,Miklossy G,Kuloglu Z,Kansu A,Lee W,Szonyi L,Banki K,Perl A

更新日期：2020-05-01 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：:Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for affected individuals. ...

journal_title：Journal of inherited metabolic disease

authors： Balasubramaniam S,Duley JA,Christodoulou J

更新日期：2014-09-01 00:00:00

abstract：:It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated levels of uric acid, one of the potent low molecular- weight antioxidants found in plasma. The present communication describes a use of two analytical methods-cycli...

journal_title：Journal of inherited metabolic disease

authors： Koren E,Lipkin J,Klar A,Hershkovitz E,Ginsburg I,Kohen R

更新日期：2009-10-01 00:00:00

abstract：:Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The cond...

journal_title：Journal of inherited metabolic disease

authors： van de Kamp JM,Mancini GM,Salomons GS

更新日期：2014-09-01 00:00:00

abstract：:Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. Enzyme replacement therapy (ERT) in adult AGU mice with AGA removes the accumulating substance aspartylglucosamine from and reverses pathology in ma...

journal_title：Journal of inherited metabolic disease

authors： Dunder U,Valtonen P,Kelo E,Mononen I

更新日期：2010-10-01 00:00:00

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

authors： Bohr VA

更新日期：2002-05-01 00:00:00

abstract：:We report 8 cases of severe cytochrome c oxidase deficiency with onset in the neonatal period. Clinical symptoms were heterogeneous: antenatal cerebral malformations, neurological distress with ketoacidosis, severe myopathy, or isolated respiratory control failure. Lactic acid was elevated in blood and/or CSF in 7 cas...

journal_title：Journal of inherited metabolic disease

authors： Lombes A,Romero NB,Touati G,Frachon P,Cheval MA,Giraud M,Simon D,Ogier de Baulny H

更新日期：1996-01-01 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：:Defects of the mitochondrial oxidative phosphorylation (OXPHOS) system are frequent causes of neurological disorders in children. Linkage analysis and DNA sequencing identified a new founder p.G250V substitution in the C20ORF7 complex I chaperone in five Ashkenazi Jewish patients from two families with a combined OXPH...

journal_title：Journal of inherited metabolic disease

authors： Saada A,Edvardson S,Shaag A,Chung WK,Segel R,Miller C,Jalas C,Elpeleg O

更新日期：2012-01-01 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：:The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...

journal_title：Journal of inherited metabolic disease

authors： Chalmers RA

更新日期：1984-01-01 00:00:00

abstract：:The transmembrane domain recognition complex (TRC) targets cytoplasmic C-terminal tail-anchored (TA) proteins to their respective membranes in the endoplasmic reticulum (ER), Golgi, and mitochondria. It is composed of three proteins, GET4, BAG6, and GET5. We identified an individual with compound heterozygous missense...

journal_title：Journal of inherited metabolic disease

authors： Tambe MA,Ng BG,Shimada S,Wolfe LA,Adams DR,Undiagnosed Diseases Network.,Gahl WA,Bamshad MJ,Nickerson DA,Malicdan MCV,Freeze HH

更新日期：2020-09-01 00:00:00

abstract：:We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpe...

journal_title：Journal of inherited metabolic disease

authors： de Vries MC,Rodenburg RJ,Morava E,Lammens M,van den Heuvel LP,Korenke GC,Smeitink JA

更新日期：2008-12-01 00:00:00

abstract：AIM:This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS:24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, pl...

journal_title：Journal of inherited metabolic disease

authors： Grigorescu Sido P,Drugan C,Cret V,Al-Kzouz C,Denes C,Coldea C,Zimmermann A

更新日期：2007-10-01 00:00:00

abstract：:Neuropsychological assessment is essential in providing documentation of the untreated natural history of storage diseases associated with dementia and quantifying the effectiveness of treatment on central nervous system function. Baseline characterization and outcome of bone marrow transplantation (BMT) for three leu...

journal_title：Journal of inherited metabolic disease

authors： Shapiro EG,Lockman LA,Balthazor M,Krivit W

更新日期：1995-01-01 00:00:00

abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

journal_title：Journal of inherited metabolic disease

authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

更新日期：2000-07-01 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：:Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study a...

journal_title：Journal of inherited metabolic disease

authors： Barrett MJ,Giraldo P,Capablo JL,Alfonso P,Irun P,Garcia-Rodriguez B,Pocovi M,Pastores GM

更新日期：2013-05-01 00:00:00

abstract：:Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, ge...

journal_title：Journal of inherited metabolic disease

authors： Mitsubuchi H,Matsuda I,Nobukuni Y,Heidenreich R,Indo Y,Endo F,Mallee J,Segal S

更新日期：1992-01-01 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：:Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of it...

journal_title：Journal of inherited metabolic disease

authors： Korner G,Scherer T,Adamsen D,Rebuffat A,Crabtree M,Rassi A,Scavelli R,Homma D,Ledermann B,Konrad D,Ichinose H,Wolfrum C,Horsch M,Rathkolb B,Klingenspor M,Beckers J,Wolf E,Gailus-Durner V,Fuchs H,Hrabě de Angelis M,

更新日期：2016-03-01 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：:Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in the younger. The finding of increased levels of cis-5-tetradecenoic acid (C14:1) in plasma, severe hypocarnitin...

journal_title：Journal of inherited metabolic disease

authors： Merinero B,Pascual Pascual SI,Pérez-Cerdá C,Gangoiti J,Castro M,Garcia MJ,Pascual Castroviejo I,Vianey-Saban C,Andresen B,Gregersen N,Ugarte M

更新日期：1999-10-01 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：: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