Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

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：:A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.6-3...

journal_title：Journal of inherited metabolic disease

authors： Jakobs C,ten Brink HJ,Langelaar SA,Zee T,Stellaard F,Macek M,Srsnová K,Srsen S,Kleijer WJ

更新日期：1991-01-01 00:00:00

abstract：:Patients with Fabry disease frequently develop left ventricular (LV) hypertrophy and renal fibrosis. Due to heat intolerance and an inability to sweat, patients tend to avoid exposure to sunlight. We hypothesized that subsequent vitamin D deficiency may contribute to Fabry cardiomyopathy. This study investigated the v...

journal_title：Journal of inherited metabolic disease

authors： Drechsler C,Schmiedeke B,Niemann M,Schmiedeke D,Krämer J,Turkin I,Blouin K,Emmert A,Pilz S,Obermayer-Pietsch B,Weidemann F,Breunig F,Wanner C

更新日期：2014-03-01 00:00:00

abstract：:A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were ...

journal_title：Journal of inherited metabolic disease

authors： van Hove JL,Rutledge SL,Nada MA,Kahler SG,Millington DS

更新日期：1995-01-01 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：:Molecular chaperones are present in the various compartments of the cell and assist the folding of newly synthesized proteins. Compared to wild-type proteins, missense mutant proteins are generally synthesized in a normal fashion, but may be impaired in their folding. A broad array of diseases that are due to misfoldi...

journal_title：Journal of inherited metabolic disease

authors： Gregersen N,Bross P,Andrese BS,Pedersen CB,Corydon TJ,Bolund L

更新日期：2001-04-01 00:00:00

abstract：:Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

journal_title：Journal of inherited metabolic disease

authors： Farriaux JP,Luyckx AS,Ribet M

更新日期：1980-01-01 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：:Mucopolysaccharidoses are autosomal and recessive lysosomal storage disorders caused by the deficiency of a lysosomal enzyme involved in glycosaminoglycan catabolism. The Sanfilippo type A disease (MPS III A) results from sulfamidase deficiency, which leads to accumulation of heparan sulfate, whereas Sly disease (MPS ...

journal_title：Journal of inherited metabolic disease

authors： Arfi A,Richard M,Gandolphe C,Scherman D

更新日期：2010-02-01 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：: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：:The ability of EB virus-transformed lymphoblasts with undetectable galactose-1-phosphate uridyltransferase (GALT) from 15 galactosaemic patients to oxidize [1-(14)C]galactose to 14CO2 was compared to that of cells from 7 normal subjects. The oxidation of galactose but not of glucose was markedly diminished by cells fr...

journal_title：Journal of inherited metabolic disease

authors： Yager C,Gibson J,States B,Elsas LJ,Segal S

更新日期：2001-08-01 00:00:00

abstract：:The intestinal microvillar enzyme complex sucrase-isomaltase has been studied in cystic fibrosis and control ileum. A number of biochemical parameters of the enzyme in ileum homogenates have been determined. Both solubilized as well as membrane-bound sucrase-isomaltase were analyzed with respect to their reaction with...

journal_title：Journal of inherited metabolic disease

authors： Sips HJ,Claass AH,van Dongen JM,Willemsen R,Hoogeveen AT,Galjaard H,Sinaasappel M,Hauri HP,Sterchi EE

更新日期：1985-01-01 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：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

abstract：:Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of...

journal_title：Journal of inherited metabolic disease

authors： Chabik G,Litwin T,Członkowska A

更新日期：2014-01-01 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：:Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300 disease genes currently described. Approximately half of these have been discovered in the last decade due to the increasingly widespread application of next gen...

journal_title：Journal of inherited metabolic disease

authors： Thompson K,Collier JJ,Glasgow RIC,Robertson FM,Pyle A,Blakely EL,Alston CL,Oláhová M,McFarland R,Taylor RW

更新日期：2020-01-01 00:00:00

abstract：:Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garro...

journal_title：Journal of inherited metabolic disease

authors： Scriver CR

更新日期：2008-10-01 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：:Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine deple...

journal_title：Journal of inherited metabolic disease

authors： Schiff M,Ogier de Baulny H,Bard G,Barlogis V,Hamel C,Moat SJ,Odent S,Shortland G,Touati G,Giraudier S

更新日期：2010-06-01 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：:Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r = 0.75, p less than 0.01). Compared to leukocy...

journal_title：Journal of inherited metabolic disease

authors： Buchalter MS,Wannmacher CM,Wajner M

更新日期：1984-01-01 00:00:00

abstract：:Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfun...

journal_title：Journal of inherited metabolic disease

authors： Hennekam RC

更新日期：2005-01-01 00:00:00

abstract：:Massive production and accumulation of a single abnormal protein may constitute a major toxic burden for the cell and even compromise the organism's long-term viability. Consequently, adaptation and survival have forced evolution to create 'quality control' mechanisms that detect, monitor, and often degrade such abnor...

journal_title：Journal of inherited metabolic disease

authors： Amaral MD

更新日期：2006-04-01 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：:The activity (mean +/- SD) of galactose-1-phosphate uridyl transferase in two long-term lymphoid cell lines from Caucasian patients with transferase deficiency galactosaemia, a heterozygote, and eight normal subjects was 0, 78 and 168 +/- 55 nmol UDPG consumed (mg protein)-1h-1, respectively. Also, no activity was fou...

journal_title：Journal of inherited metabolic disease

authors： Beratis NG,Wilbur L

更新日期：1987-01-01 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：:Studies on fibroblasts from patients with lactic acidosis of different causes showed secondary metabolic changes in pathways of glucose metabolism. These secondary changes may be important clues to the diagnosis of the many different types of hereditary lactic acidosis. ...

journal_title：Journal of inherited metabolic disease

authors： Borud O,Strømme JH

更新日期：1978-01-01 00:00:00

abstract：:A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable rep...

journal_title：Journal of inherited metabolic disease

authors： Millward LM,Kelly P,Deacon A,Senior V,Peters TJ

更新日期：2001-12-01 00:00:00