Dolichol and phosphorylated dolichol content of tissues in ceroid-lipofuscinosis.

abstract：BACKGROUND:Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood. OBJECTIVES:To investigate whether there is reliable evidence...

journal_title：Journal of inherited metabolic disease

authors： Bolsover FE,Murphy E,Cipolotti L,Werring DJ,Lachmann RH

更新日期：2014-03-01 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：:Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. Thi...

journal_title：Journal of inherited metabolic disease

authors： Waisbren SE,Cuthbertson D,Burgard P,Holbert A,McCarter R,Cederbaum S,Members of the Urea Cycle Disorders Consortium.

更新日期：2018-07-01 00:00:00

abstract：:A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further inve...

journal_title：Journal of inherited metabolic disease

authors： Calvo PL,Pagliardini S,Baldi M,Pucci A,Sturiale L,Garozzo D,Vinciguerra T,Barbera C,Jaeken J

更新日期：2008-12-01 00:00:00

abstract：:Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are general...

journal_title：Journal of inherited metabolic disease

authors： Hwu WL,Chien YH,Lee NC

更新日期：2010-08-01 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：:There are two mechanisms for glucose transport across cell membranes. In the intestine and renal proximal tubule, glucose is transported against a concentration gradient by a secondary active transport mechanism in which glucose is cotransported with sodium ions. In all other cells, glucose transport is mediated by on...

journal_title：Journal of inherited metabolic disease

authors： Brown GK

更新日期：2000-05-01 00:00:00

abstract：:High lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. Not only does hyperlactataemia cause acute clinical deterioration, but chronic lactate elevations have also been associated with many of the long-term complications in GSD. A portable finger-stick blood lactate m...

journal_title：Journal of inherited metabolic disease

authors： Saunders AC,Feldman HA,Correia CE,Weinstein DA

更新日期：2005-01-01 00:00:00

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：:Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose ...

journal_title：Journal of inherited metabolic disease

authors： Chou JY,Cho JH,Kim GY,Mansfield BC

更新日期：2018-11-01 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：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：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...

journal_title：Journal of inherited metabolic disease

authors： Pope FM,Daw SC,Narcisi P,Richards AR,Nicholls AC

更新日期：1989-01-01 00:00:00

abstract：:Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm. Ideally, CF NBS is incorporated as part of an integr...

journal_title：Journal of inherited metabolic disease

authors： Hale JE,Parad RB,Dorkin HL,Gerstle R,Lapey A,O'Sullivan BP,Spencer T,Yee W,Comeau AM

更新日期：2010-10-01 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

abstract：:The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spont...

journal_title：Journal of inherited metabolic disease

authors： Clayton PT,Winchester BG,Keir G

更新日期：1992-01-01 00:00:00

abstract：:We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramat...

journal_title：Journal of inherited metabolic disease

authors： Quintana E,Pineda M,Font A,Vilaseca MA,Tort F,Ribes A,Briones P

更新日期：2010-12-01 00:00:00

abstract：:Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder resulting from the inability to metabolize sulphatide, an important component of myelin. Although there is significant clinical variability between patients, most have the late-infantile form. It is one of the most common lysosomal disorders involvi...

journal_title：Journal of inherited metabolic disease

authors： Pastor-Soler NM,Schertz EM,Rafi MA,de Gala G,Wenger DA

更新日期：1995-01-01 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：UNLABELLED:This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis. BACKGROUND:Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases...

journal_title：Journal of inherited metabolic disease

authors： Jurecka A,Stiburkova B,Krijt J,Gradowska W,Tylki-Szymanska A

更新日期：2010-12-01 00:00:00

abstract：:Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozyg...

journal_title：Journal of inherited metabolic disease

authors： Fairley C,Zimran A,Phillips M,Cizmarik M,Yee J,Weinreb N,Packman S

更新日期：2008-12-01 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：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：: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：BACKGROUND:Internet searches on health topics are common, but not enough is known about online use during serious health concerns. The aim of this study was to investigate parents' internet use and responses to online information following the referral of their newborn screen-positive infants. METHODS:Forty-four paren...

journal_title：Journal of inherited metabolic disease

authors： DeLuca JM,Kearney MH,Norton SA,Arnold GL

更新日期：2012-09-01 00:00:00

abstract：:Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged...

journal_title：Journal of inherited metabolic disease

authors： Alharbi FJ,Baig S,Auray-Blais C,Boutin M,Ward DG,Wheeldon N,Steed R,Dawson C,Hughes D,Geberhiwot T

更新日期：2018-03-01 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：: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：: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: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