Techniques for studying hepatic metabolism in vivo.

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：:6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU we...

journal_title：Journal of inherited metabolic disease

authors： Cromby CH,Manning NJ,Pollitt RJ,Powell S,Bennett MJ

更新日期：1994-01-01 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：:Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additio...

journal_title：Journal of inherited metabolic disease

authors： Kretz R,Bozorgmehr B,Kariminejad MH,Rohrbach M,Hausser I,Baumer A,Baumgartner M,Giunta C,Kariminejad A,Häberle J

更新日期：2011-06-01 00:00:00

abstract：:NTBC is a triketone with herbicidal activity that has been shown to have a novel mode of action by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase in plants. Early studies on the toxicity of this compound found that rats treated with NTBC developed corneal lesions. Investigations aimed at understanding the m...

journal_title：Journal of inherited metabolic disease

authors： Lock EA,Ellis MK,Gaskin P,Robinson M,Auton TR,Provan WM,Smith LL,Prisbylla MP,Mutter LC,Lee DL

更新日期：1998-08-01 00:00:00

abstract：:The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Cha...

journal_title：Journal of inherited metabolic disease

authors： le Roux C,Murphy E,Lilburn M,Lee PJ

更新日期：2006-02-01 00:00:00

abstract：:XLH (X-linked hypophosphataemia, gene symbol HYP, McKusick 307800, 307810) and its murine counterparts (Hyp and Gy) map to a conserved segment on the X-chromosome (Xp 22.31-p.21.3, human; distal X, mouse). Gene dosage has received relatively little attention in the long history of research on this disease, which began...

journal_title：Journal of inherited metabolic disease

authors： Scriver CR,Tenenhouse HS

更新日期：1992-01-01 00:00:00

abstract：:An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in ...

journal_title：Journal of inherited metabolic disease

authors： Kvittingen EA,Talseth T,Halvorsen S,Jakobs C,Hovig T,Flatmark A

更新日期：1991-01-01 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

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：:Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry. ...

journal_title：Journal of inherited metabolic disease

authors： Baykal T,Karaaslan I,Gokcay G,Demir F,Laleli Y,Demirkol M

更新日期：2004-01-01 00:00:00

abstract：:Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI ...

journal_title：Journal of inherited metabolic disease

authors： Hayasaka K,Narisawa K,Ohura T,Ogawa E,Dahl HH

更新日期：1990-01-01 00:00:00

abstract：:Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyl-transferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). U...

journal_title：Journal of inherited metabolic disease

authors： Webster DR,Simmonds HA,Barry DM,Becroft DM

更新日期：1981-01-01 00:00:00

abstract：:Even early-treated phenylketonuric patients suffer from phenylalanine-associated (mild) neuropsychological impairment. To date it is still unclear whether patients' deficits show a progression on ageing. This unsolved question seems to be an important aspect in the still ongoing debate about how long and how strictly ...

journal_title：Journal of inherited metabolic disease

authors： Weglage J,Pietsch M,Denecke J,Sprinz A,Feldmann R,Grenzebach M,Ullrich K

更新日期：1999-08-01 00:00:00

abstract：:The different long-chain fatty acid oxidation defects present with similar heterogeneous clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver, and skeletal muscles. All symptoms are reversible with sufficient energy supply. In some long-chain fatty acid oxidation defects, disease...

journal_title：Journal of inherited metabolic disease

authors： Spiekerkoetter U

更新日期：2010-10-01 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：:Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting...

journal_title：Journal of inherited metabolic disease

authors： Metoki K,Hommes FA,Dyken P,Kelloes C,Trefz J

更新日期：1984-01-01 00:00:00

abstract：:The glycine uptake in cultured fibroblasts was studied in three children with non-ketotic hyperglycinaemia, one child with D-glyceric acidaemia and hyperglycinaemia and in six normal children, using an improved assay system giving individual protein correction. It was shown that all hyperglycinaemic children had norma...

journal_title：Journal of inherited metabolic disease

authors： Kølvraa S,Rosleff F,Brandt NJ

更新日期：1983-01-01 00:00:00

abstract：:In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiolo...

journal_title：Journal of inherited metabolic disease

authors： Duarte ST,Ortez C,Pérez A,Artuch R,García-Cazorla A

更新日期：2011-04-01 00:00:00

abstract：:Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varyin...

journal_title：Journal of inherited metabolic disease

authors： Bouchereau J,Leduc-Leballeur J,Pichard S,Imbard A,Benoist JF,Abi Warde MT,Arnoux JB,Barbier V,Brassier A,Broué P,Cano A,Chabrol B,Damon G,Gay C,Guillain I,Habarou F,Lamireau D,Ottolenghi C,Paermentier L,Sabourdy F,

更新日期：2017-05-01 00:00:00

abstract：:5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presente...

journal_title：Journal of inherited metabolic disease

authors： Ruijter GJ,Mourad-Baars PE,Ristoff E,Onkenhout W,Poorthuis BJ

更新日期：2006-08-01 00:00:00

abstract：:L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat variable, but affected individual...

journal_title：Journal of inherited metabolic disease

authors： Sass JO,Jobard F,Topçu M,Mahfoud A,Werlé E,Cure S,Al-Sannaa N,Alshahwan SA,Bataillard M,Cimbalistiene L,Grolik C,Kemmerich V,Omran H,Sztriha L,Tabache M,Fischer J

更新日期：2008-12-01 00:00:00

abstract：:Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data ...

journal_title：Journal of inherited metabolic disease

authors： Girard M,Douillard C,Debray D,Lacaille F,Schiff M,Vuillaumier-Barrot S,Dupré T,Fabre M,Damaj L,Kuster A,Torre S,Mention K,McLin V,Dobbelaere D,Borgel D,Bauchard E,Seta N,Bruneel A,De Lonlay P

更新日期：2020-11-01 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：:In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...

journal_title：Journal of inherited metabolic disease

authors： Reed T,Cohen Kadosh R

更新日期：2018-07-13 00:00:00

abstract：:Hypoglycaemia induced by fructose administration is one of the diagnostic clues to fructose-1,6-diphosphatase (FDPase) deficiency (McKusick 229700). However, the pathological mechanism of this reactive hypoglycaemia is not fully known. This paper describes two siblings with FDPase deficiency, diagnosed enzymatically i...

journal_title：Journal of inherited metabolic disease

authors： Nagai T,Yokoyama T,Hasegawa T,Tsuchiya Y,Matsuo N

更新日期：1992-01-01 00:00:00

abstract：:Four myopathic patients with complex I deficiency followed diets containing 55 energy per cent (En%) as fat or 25 En% as fat, both for three weeks. Maximal workload and muscle force were not different on either diet. Exercise endurance time, oxygen consumption and lactate levels were also not different, but one patien...

journal_title：Journal of inherited metabolic disease

authors： de Meer K,Roef MJ,de Klerk JB,Bakker HD,Smit GP,Poll-The BT

更新日期：2005-01-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...

journal_title：Journal of inherited metabolic disease

authors： Francisco R,Pascoal C,Marques-da-Silva D,Morava E,Gole GA,Coman D,Jaeken J,Dos Reis Ferreira V

更新日期：2019-01-01 00:00:00

abstract：:The CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten-Spielmeyer-Vogt disease, a severe hereditary neurodegenerative lysosomal storage disorder characterized by progressive disease pathology, with loss of vision as the first symptom. Another characteristic of JNCL is the lysosomal accu...

journal_title：Journal of inherited metabolic disease

authors： de Voer G,van der Bent P,Rodrigues AJ,van Ommen GJ,Peters DJ,Taschner PE

更新日期：2005-01-01 00:00:00

abstract：:Twenty-four pregnancies at risk for Hurler disease (MPS I) were monitored by measurement of alpha-iduronidase in chorionic villi. Adequate samples were obtained for direct assay of the villi in 22 pregnancies. Five were found to be affected and the pregnancies were terminated. In another pregnancy an equivocal result ...

journal_title：Journal of inherited metabolic disease

authors： Young EP

更新日期：1992-01-01 00:00:00