The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

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：:There is a failure of growth in hypoxanthine guanine phosphoribosyltransferase deficiency; slow weight gain is marked after the second year of age but is apparent in the birth weights of all eight of our patients for whom we have data. However, head growth and bone development are less affected than weight. A partial ...

journal_title：Journal of inherited metabolic disease

authors： Watts RW,Harkness RA,Spellacy E,Taylor NF

更新日期：1987-01-01 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：:Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice...

journal_title：Journal of inherited metabolic disease

authors： Illsinger S,Lücke T,Hartmann H,Mengel E,Müller-Forell W,Donnerstag F,Das AM

更新日期：2009-12-01 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：: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：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

journal_title：Journal of inherited metabolic disease

authors： Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

更新日期：2011-12-01 00:00:00

abstract：:Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs b...

journal_title：Journal of inherited metabolic disease

authors： Barić I,Zschocke J,Christensen E,Duran M,Goodman SI,Leonard JV,Müller E,Morton DH,Superti-Furga A,Hoffmann GF

更新日期：1998-06-01 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：: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：INTRODUCTION:Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS:Based on Euroglycan database registration, we approache...

journal_title：Journal of inherited metabolic disease

authors： Morava E,Tiemes V,Thiel C,Seta N,de Lonlay P,de Klerk H,Mulder M,Rubio-Gozalbo E,Visser G,van Hasselt P,Horovitz DDG,de Souza CFM,Schwartz IVD,Green A,Al-Owain M,Uziel G,Sigaudy S,Chabrol B,van Spronsen FJ,Steinert

更新日期：2016-09-01 00:00:00

abstract：:Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been ...

journal_title：Journal of inherited metabolic disease

authors： Tümer Z,Horn N

更新日期：1998-08-01 00:00:00

abstract：:Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases in intermediate-density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein B-100 (apo B) metab...

journal_title：Journal of inherited metabolic disease

authors： Wierzbicki AS,Watt GF,Lynas J,Winder AF,Wray R

更新日期：2001-10-01 00:00:00

abstract：:We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which we...

journal_title：Journal of inherited metabolic disease

authors： Grünewald S,De Vos R,Jaeken J

更新日期：2003-01-01 00:00:00

abstract：:In mammals, dosage compensation for X-linked genes between males and females is achieved by the inactivation of one of the X chromosomes in females. The inactivation event occurs early in development in all cells of the female mouse embryo and is stable and heritable in somatic cells. However, in the primordial germ c...

journal_title：Journal of inherited metabolic disease

authors： Monk M

更新日期：1992-01-01 00:00:00

abstract：:Adenosine deaminase (ADA) deficiency was the first known cause of primary immunodeficiency. Over the past 25 years the basis for immune deficiency has largely been established. Now it appears that ADA deficiency may also cause hepatic toxicity, raising new questions about its pathogenesis. The ADA gene has been sequen...

journal_title：Journal of inherited metabolic disease

authors： Hershfield MS,Arredondo-Vega FX,Santisteban I

更新日期：1997-06-01 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：:The introduction of tandem mass spectrometry has unquestionably been the most striking recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders, making it possible to screen for some disorders that might otherwise have seemed too rare. Current screening is f...

journal_title：Journal of inherited metabolic disease

authors： Wilcken B

更新日期：2007-04-01 00:00:00

abstract：:In most patients with deficiency of tetrahydrobiopterin (BH4) continuous administration of BH4 or of a synthetic analogue such as 6-methyltetrahydropterin (6-MPH4) lowers plasma phenylalanine concentrations to the therapeutic range. The effective dose of BH4 varies from 1 to 2 mg kg-1 daily in patients with defective ...

journal_title：Journal of inherited metabolic disease

authors： Smith I,Hyland K,Kendall B

更新日期：1985-01-01 00:00:00

abstract：:Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionist...

journal_title：Journal of inherited metabolic disease

authors： Hohenfellner K,Rauch F,Ariceta G,Awan A,Bacchetta J,Bergmann C,Bechtold S,Cassidy N,Deschenes G,Elenberg E,Gahl WA,Greil O,Harms E,Herzig N,Hoppe B,Koeppl C,Lewis MA,Levtchenko E,Nesterova G,Santos F,Schlingmann K

更新日期：2019-09-01 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：: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：: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：BACKGROUND:Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genotype-phenotype correla...

journal_title：Journal of inherited metabolic disease

authors： Schmidt SP,Corydon TJ,Pedersen CB,Vang S,Palmfeldt J,Stenbroen V,Wanders RJ,Ruiter JP,Gregersen N

更新日期：2011-04-01 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：: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：:The extent of hydroxylation of proline in collagen synthesized and secreted into the culture medium by skin fibroblasts derived from a patient with prolidase deficiency has been examined and found to be normal. It would seem likely that to a considerable extent the urinary proline-containing dipeptides apparent in thi...

journal_title：Journal of inherited metabolic disease

authors： Royce PM,Danks DM

更新日期：1982-01-01 00:00:00

abstract：:A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

journal_title：Journal of inherited metabolic disease

authors： Michelakakis H,Dimitriou E,Labadaridis I

更新日期：2004-01-01 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：:This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, m...

journal_title：Journal of inherited metabolic disease

authors： Fowler B,Schutgens RB,Rosenblatt DS,Smit GP,Lindemans J

更新日期：1997-11-01 00:00:00