Direct alteration of a gene in the human genome.

abstract：OBJECTIVE:Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, inc...

journal_title：Journal of inherited metabolic disease

authors： Wang RY,Monuki ES,Powers J,Schwartz PH,Watkins PA,Shi Y,Moser A,Shrier DA,Waterham HR,Nugent DJ,Abdenur JE

更新日期：2014-09-01 00:00:00

abstract：:The inheritance of Crigler-Najjar type II disease is still contested. Autosomal dominant transmission with incomplete penetrance and autosomal recessive transmission have been proposed. We had the opportunity to study the hepatic activity of bilirubin uridinediphosphate glucuronyltransferase in parents whose first chi...

journal_title：Journal of inherited metabolic disease

authors： Labrune P,Myara A,Hennion C,Gout JP,Trivin F,Odievre M

更新日期：1989-01-01 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：:Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of alpha-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, s...

journal_title：Journal of inherited metabolic disease

authors： Baehner F,Kampmann C,Whybra C,Miebach E,Wiethoff CM,Beck M

更新日期：2003-01-01 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：: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：:In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acids, the biosynthesis of ether-phospholipids and of bile acids, t...

journal_title：Journal of inherited metabolic disease

authors： Schutgens RB,Wanders RJ,Heymans HS,Schram AW,Tager JM,Schrakamp G,van den Bosch H

更新日期：1987-01-01 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：:We report two novel mutations in two Japanese patients with glycogen storage disease type IIIa (GSD IIIa). In addition, we review the literature on mutations in GSD III to understand better the molecular basis of GSD III. In our first case, the homozygous A-to-C mutation at the acceptor site of intron 5 (IVS5-2A > C) ...

journal_title：Journal of inherited metabolic disease

authors： Fukuda T,Sugie H,Ito M

更新日期：2000-03-01 00:00:00

abstract：:Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

journal_title：Journal of inherited metabolic disease

authors： Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

更新日期：2008-12-01 00:00:00

abstract：:Congenital lactic acidoses form a heterogeneous group of disorders: this paper considers primarily defects of the pyruvate dehydrogenase complex and the respiratory chain. Attempts to treat these disorders are hampered by uncertainty concerning the pathophysiology and by the central role of the enzymes in cellular met...

journal_title：Journal of inherited metabolic disease

authors： Morris AA,Leonard JV

更新日期：1996-01-01 00:00:00

abstract：:The progress and extent of myelination can be assessed using magnetic resonance imaging (MRI). Myelination is delayed or diminished in several inherited metabolic abnormalities presenting in early life. Only minimal myelination of the CNS occurs in Pelizaeus-Merzbacher disease. Dysmyelination tends to produce fairly s...

journal_title：Journal of inherited metabolic disease

authors： Kendall BE

更新日期：1993-01-01 00:00:00

abstract：:We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range <320 nmol/L) and MRI revealed signal abnormalities of the...

journal_title：Journal of inherited metabolic disease

authors： Tuschl K,Mills PB,Parsons H,Malone M,Fowler D,Bitner-Glindzicz M,Clayton PT

更新日期：2008-04-01 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：:Important therapeutic principles were established in developing effective enzyme replacement therapy for patients with Gaucher disease. The background and sequence of the investigations that led to effective delivery of exogenous glucocerebrosidase to the lipid-storing macrophages in patients with Gaucher disease are ...

journal_title：Journal of inherited metabolic disease

authors： Brady RO,Murray GJ,Barton NW

更新日期：1994-01-01 00:00:00

abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...

journal_title：Journal of inherited metabolic disease

authors： Refsum H,Fiskerstrand T,Guttormsen AB,Ueland PM

更新日期：1997-06-01 00:00:00

abstract：:Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal...

journal_title：Journal of inherited metabolic disease

authors： González-Noriega A,Verduzco J,Prieto E,Velázquez A

更新日期：1980-01-01 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：: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：:The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...

journal_title：Journal of inherited metabolic disease

authors： Haas D,Niklowitz P,Hörster F,Baumgartner ER,Prasad C,Rodenburg RJ,Hoffmann GF,Menke T,Okun JG

更新日期：2009-08-01 00:00:00

abstract：:A female patient with isovaleric acidaemia had a successful outcome from pregnancy. ...

journal_title：Journal of inherited metabolic disease

authors： Spinty S,Rogozinski H,Lealman GT,Wraith JE

更新日期：2002-12-01 00:00:00

abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...

journal_title：Journal of inherited metabolic disease

authors： Ozen H,Ciliv G,Koçak N,Saltik IN,Yüce A,Gürakan F

更新日期：2000-07-01 00:00:00

abstract：:As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This a...

journal_title：Journal of inherited metabolic disease

authors： Hewlett J,Waisbren SE

更新日期：2006-10-01 00:00:00

abstract：:Recently, we reported that baicalein 5,6,7-trimethyl ether (BTM), a flavonoid, is capable of activating fatty acid beta-oxidation in X-linked adrenoleukodystrophy (X-ALD) fibroblasts (FEBS Lett. 2005; 579: 409-414). The objective of this study was to clarify whether BTM activates peroxisomal and/or mitochondrial fatty...

journal_title：Journal of inherited metabolic disease

authors： Morita M,Kanai M,Mizuno S,Iwashima M,Hayashi T,Shimozawa N,Suzuki Y,Imanaka T

更新日期：2008-06-01 00:00:00

abstract：:Employing lymphoblasts derived from two non related patients with L-2-HG aciduria, we examined the origin of L-2-hydroxyglutaric acid (L-2-HG) through incubation with [(13)C6]glucose and [(2)H5]glutamic acid. Formation of labelled 2-ketoglutaric acid (2-KG), citric acid and L-2-HG was determined by GC-MS. The quantita...

journal_title：Journal of inherited metabolic disease

authors： Struys EA,Gibson KM,Jakobs C

更新日期：2007-10-01 00:00:00

abstract：:Recently a striking elevation of the activity of chitotriosidase, an endo beta-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gau...

journal_title：Journal of inherited metabolic disease

authors： Guo Y,He W,Boer AM,Wevers RA,de Bruijn AM,Groener JE,Hollak CE,Aerts JM,Galjaard H,van Diggelen OP

更新日期：1995-01-01 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：: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：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...

journal_title：Journal of inherited metabolic disease

authors： Vogel KR,Ainslie GR,Walters DC,McConnell A,Dhamne SC,Rotenberg A,Roullet JB,Gibson KM

更新日期：2018-07-01 00:00:00

abstract：:Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most comm...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Pavlova Z

更新日期：2009-12-01 00:00:00