Pathogenic cascades in lysosomal disease-Why so complex?

abstract：:Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutation...

journal_title：Journal of inherited metabolic disease

authors： Ida H,Rennert OM,Kawame H,Maekawa K,Eto Y

更新日期：1997-03-01 00:00:00

abstract：:Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscl...

journal_title：Journal of inherited metabolic disease

authors： Regelsberger G,Höftberger R,Pickl WF,Zlabinger GJ,Körmöczi U,Salzer-Muhar U,Luckner D,Bodamer OA,Mayr JA,Muss WH,Budka H,Bernheimer H

更新日期：2009-12-01 00:00:00

abstract：:Rapid diagnosis and early specific treatment of metabolic epilepsies due to inborn errors of metabolism (IEMs) is crucial to avoid irreversible sequalae. Nowadays, besides the profile analysis of amino- and organic acids, a range of additional targeted assays is used for the selective screening of those diseases. This...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Beese K,Rüegg C,Plecko B,Hersberger M

更新日期：2020-09-01 00:00:00

abstract：:Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

journal_title：Journal of inherited metabolic disease

authors： Martinelli D,Deodato F,Dionisi-Vici C

更新日期：2011-02-01 00:00:00

abstract：:Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. I...

journal_title：Journal of inherited metabolic disease

authors： Boczonadi V,Bansagi B,Horvath R

更新日期：2015-05-01 00:00:00

abstract：:Glutaric aciduria type 1 (GA1) is an inborn error of lysine degradation characterized by acute encephalopathy that is caused by toxic accumulation of lysine degradation intermediates. We investigated the efficacy of substrate reduction through inhibition of 2-aminoadipic semialdehyde synthase (AASS), an enzyme upstrea...

journal_title：Journal of inherited metabolic disease

authors： Leandro J,Dodatko T,DeVita RJ,Chen H,Stauffer B,Yu C,Houten SM

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

journal_title：Journal of inherited metabolic disease

authors： Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

更新日期：2015-09-01 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：: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：:Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies. A founder effect for a few specific mutations in geographic regions where prevalence is high (Sweden, The Netherlands, Switzerland) has be...

journal_title：Journal of inherited metabolic disease

authors： Paradisi I,Arias S

更新日期：2010-12-01 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：:GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic domain of t...

journal_title：Journal of inherited metabolic disease

authors： Sinici I,Tropak MB,Mahuran DJ,Ozkara HA

更新日期：2004-01-01 00:00:00

abstract：:Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

journal_title：Journal of inherited metabolic disease

authors： Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

更新日期：2005-01-01 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：:The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summari...

journal_title：Journal of inherited metabolic disease

authors： Jardim LB,Villanueva MM,de Souza CF,Netto CB

更新日期：2010-08-01 00:00:00

abstract：:A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...

journal_title：Journal of inherited metabolic disease

authors： Igarashi Y,Otomo H,Narisawa K,Tada K

更新日期：1980-01-01 00:00:00

abstract：:Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and...

journal_title：Journal of inherited metabolic disease

authors： de Koning TJ

更新日期：2006-04-01 00:00:00

abstract：: ...

journal_title：Journal of inherited metabolic disease

authors： García-Cazorla À,Artuch R,Bayès À

更新日期：2018-11-01 00:00:00

abstract：:Optimum conditions for assay of human plasma beta-mannosidase activity were determined. Maximum activity was observed at pH 3.0-3.4, the apparent Km was 0.9 mmol L-1 and enzymatic hydrolysis was linear for at least 60 min. Assays were performed on plasma from two siblings with the recently described condition beta-man...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton C,Sardharwalla IB

更新日期：1987-01-01 00:00:00

abstract：:Glutaric aciduria type I is an inborn error of organic acid metabolism that demonstrates a particular temporal vulnerability (acute encephalopathic episodes in infancy) and a spatial vulnerability (acute striatal necrosis, focused on the putamen). Excitotoxic mechanisms involving 3-hydroxyglutaric acid as the major ne...

journal_title：Journal of inherited metabolic disease

authors： Varadkar S,Surtees R

更新日期：2004-01-01 00:00:00

abstract：:In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of X-linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to beta-galactosidase activity. The ASC/beta-gal ratio of XLI patients is markedly decreased (range 0.07-0.48) in compari...

journal_title：Journal of inherited metabolic disease

authors： Herrmann FH,Grimm U,Hadlich J

更新日期：1987-01-01 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：: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：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuro...

journal_title：Journal of inherited metabolic disease

authors： Claesen JLA,Koomen E,Schene IF,Jans JJM,Mast N,Pikuleva IA,van der Ham M,de Sain-van der Velden MGM,Fuchs SA

更新日期：2020-07-01 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：:Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

journal_title：Journal of inherited metabolic disease

authors： Parnet JM,Divry P,Vianey-Saban C,Mathieu M

更新日期：1996-01-01 00:00:00

abstract：:This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of Gaucher disease type I are progressive in the majority of patients, children as well as adults. This is in contrast with studies among Jewish patients. Our results emphasize the need for a r...

journal_title：Journal of inherited metabolic disease

authors： Maaswinkel-Mooij P,Hollak C,van Eysden-Plaisier M,Prins M,Aerts H,Pöll R

更新日期：2000-02-01 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：:A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

journal_title：Journal of inherited metabolic disease

authors： Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

更新日期：2002-09-01 00:00:00

abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were se...

journal_title：Journal of inherited metabolic disease

authors： Ohura T,Abukawa D,Shiraishi H,Yamaguchi A,Arashima S,Hiyamuta S,Tada K,Iinuma K

更新日期：1999-02-01 00:00:00