The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.

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：:We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentr...

journal_title：Journal of inherited metabolic disease

authors： Naito E,Ito M,Yokota I,Saijo T,Matsuda J,Osaka H,Kimura S,Kuroda Y

更新日期：1997-08-01 00:00:00

abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several ...

journal_title：Journal of inherited metabolic disease

authors： Haack TB,Makowski C,Yao Y,Graf E,Hempel M,Wieland T,Tauer U,Ahting U,Mayr JA,Freisinger P,Yoshimatsu H,Inui K,Strom TM,Meitinger T,Yonezawa A,Prokisch H

更新日期：2012-11-01 00:00:00

abstract：:Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Chall...

journal_title：Journal of inherited metabolic disease

authors： Giugliani R

更新日期：2010-10-01 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

abstract：:We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

journal_title：Journal of inherited metabolic disease

authors： Balwani M,Grace ME,Desnick RJ

更新日期：2011-06-01 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：: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：BACKGROUND:Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural h...

journal_title：Journal of inherited metabolic disease

authors： Keilmann A,Hajioff D,Ramaswami U,FOS Investigators.

更新日期：2009-12-01 00:00:00

abstract：:A brief outline of the known biochemical roles of manganese and chromium is given before the problems of determining human trace metal status are discussed. The factors predisposing to trace metal deficiency are reviewed but particular emphasis is placed upon those which alter the bioavailability of essential trace me...

journal_title：Journal of inherited metabolic disease

authors： Aggett PJ,Davies NT

更新日期：1983-01-01 00:00:00

abstract：OBJECTIVE:Current available evidence on long-term effectiveness of enzyme replacement therapy (ERT) for Fabry disease is limited. More insight is needed whether ERT effectiveness differs in patients with and without baseline end-organ damage. DESIGN:Through a systematic review, untreated and ERT treated males and fema...

journal_title：Journal of inherited metabolic disease

authors： Rombach SM,Smid BE,Linthorst GE,Dijkgraaf MG,Hollak CE

更新日期：2014-05-01 00:00:00

abstract：:Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor 5'-deoxyadenosylcobalamin. The aim of this study was to evaluate which parameters best predicted the long-term outcome. Methods Standardized questionnaires were sen...

journal_title：Journal of inherited metabolic disease

authors： Hörster F,Garbade SF,Zwickler T,Aydin HI,Bodamer OA,Burlina AB,Das AM,De Klerk JBC,Dionisi-Vici C,Geb S,Gökcay G,Guffon N,Maier EM,Morava E,Walter JH,Schwahn B,Wijburg FA,Lindner M,Grünewald S,Baumgartner MR,Kölke

更新日期：2009-10-01 00:00:00

abstract：:GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 va...

journal_title：Journal of inherited metabolic disease

authors： Ribeiro MG,Pinto R,Oliveira P,Sá Miranda MC

更新日期：1993-01-01 00:00:00

abstract：:Methylmalonate (MMA) accumulates in the tissues of patients with methylmalonic acidaemia, who present severe neurological signs soon after birth and later mental retardation. Attempting to understand the pathophysiology of the disorder, we investigated the effects of MMA on brain glucose uptake, lactate release and CO...

journal_title：Journal of inherited metabolic disease

authors： Wajner M,Dutra JC,Cardoso SE,Wannmacher CM,Motta ER

更新日期：1992-01-01 00:00:00

abstract：:The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebr...

journal_title：Journal of inherited metabolic disease

authors： Gornati R,Berra B,Montorfano G,Martini C,Ciana G,Ferrari P,Romano M,Bembi B

更新日期：2002-02-01 00:00:00

abstract：:Cardiovascular lesions, including coronary artery stenosis, are frequently associated and can cause sudden death in patients with genetic defects of glycosaminoglycan (GAG) metabolism. Early diagnosis of coronary artery lesions is difficult, although potentially lifesaving. Histopathological similarities between ather...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Wong L,Castelnovi C,Azen C,Pavlova Z

更新日期：2014-03-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in ge...

journal_title：Journal of inherited metabolic disease

authors： Jaeken J,Péanne R

更新日期：2017-07-01 00:00:00

abstract：:Clinical, pathological and biochemical findings in the mannosidoses are described. Family studies showed granulocyte-rich white cell fractions to be the tissue of choice for carrier detection in beta-mannosidosis. Metabolic labelling studies using [3H] mannose demonstrated accumulation of Man beta 1-4GlcNAc in culture...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton CE,Thornley M,Sardharwalla IB

更新日期：1990-01-01 00:00:00

abstract：:The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

journal_title：Journal of inherited metabolic disease

authors： Brooks DA

更新日期：1993-01-01 00:00:00

abstract：BACKGROUND:Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurolog...

journal_title：Journal of inherited metabolic disease

authors： Manegold C,Hoffmann GF,Degen I,Ikonomidou H,Knust A,Laass MW,Pritsch M,Wilichowski E,Hörster F

更新日期：2009-06-01 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：: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：:We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts an...

journal_title：Journal of inherited metabolic disease

authors： Kiss A,Zen PR,Bittencourt V,Paskulin GA,Giugliani R,d'Azzo A,Schwartz IV

更新日期：2008-12-01 00:00:00

abstract：:Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five different small mutations have been characterized. Small mutations in the Japanese population are widely distr...

journal_title：Journal of inherited metabolic disease

authors： Isogai K,Sukegawa K,Tomatsu S,Fukao T,Song XQ,Yamada Y,Fukuda S,Orii T,Kondo N

更新日期：1998-02-01 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

abstract：:Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry...

journal_title：Journal of inherited metabolic disease

authors： Chien YH,Bodamer OA,Chiang SC,Mascher H,Hung C,Hwu WL

更新日期：2013-09-01 00:00:00

abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

journal_title：Journal of inherited metabolic disease

authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

更新日期：2007-04-01 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：:Patients with MPS IV have a clinical disorder quite different from other MPS conditions. The major treatment issue revolves around the prevention of cervical myelopathy, although the other aspects of this multisystem disease should not be forgotten. Management is inevitably multidisciplinary and the paediatrician shou...

journal_title：Journal of inherited metabolic disease

authors： Northover H,Cowie RA,Wraith JE

更新日期：1996-01-01 00:00:00

abstract：:The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leuko...

journal_title：Journal of inherited metabolic disease

authors： Aicardi J

更新日期：1993-01-01 00:00:00