abstract：BACKGROUND:Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation...

journal_title：Molecular genetics and metabolism

authors： Tajima G,Hara K,Tsumura M,Kagawa R,Okada S,Sakura N,Hata I,Shigematsu Y,Kobayashi M

更新日期：2016-12-01 00:00:00

abstract：:We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome anal...

journal_title：Molecular genetics and metabolism

authors： Bianciardi L,Imperatore V,Fernandez-Vizarra E,Lopomo A,Falabella M,Furini S,Galluzzi P,Grosso S,Zeviani M,Renieri A,Mari F,Frullanti E

更新日期：2016-11-01 00:00:00

abstract：PURPOSE:Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet storage pool defect. We report a novel mutation in HPS6 in a...

journal_title：Molecular genetics and metabolism

authors： O'Brien KJ,Lozier J,Cullinane AR,Osorio B,Nghiem K,Speransky V,Zein WM,Mullikin JC,Neff AT,Simon KL,Malicdan MC,Gahl WA,Young LR,Gochuico BR

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND:Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported t...

journal_title：Molecular genetics and metabolism

authors： Duley JA,Henman MG,Carpenter KH,Bamshad MJ,Marshall GA,Ooi CY,Wilcken B,Pinner JR

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE:To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic...

journal_title：Molecular genetics and metabolism

authors： Elliott S,Buroker N,Cournoyer JJ,Potier AM,Trometer JD,Elbin C,Schermer MJ,Kantola J,Boyce A,Turecek F,Gelb MH,Scott CR

更新日期：2016-08-01 00:00:00

abstract：:Mucopolysaccharidosis type II (MPS II: also called as Hunter syndrome) is an X-linked recessive lysosomal storage disorder characterized by the accumulation of extracellular glycosaminoglycans due to the deficiency of the enzyme iduronate-2-sulfatase (IDS). Previous observations suggested that MPS II can be classified...

journal_title：Molecular genetics and metabolism

authors： Kosuga M,Mashima R,Hirakiyama A,Fuji N,Kumagai T,Seo JH,Nikaido M,Saito S,Ohno K,Sakuraba H,Okuyama T

更新日期：2016-07-01 00:00:00

abstract：:The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

journal_title：Molecular genetics and metabolism

authors： Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

更新日期：2016-06-01 00:00:00

abstract：INTRODUCTION:Telomeres may be considered markers of biological aging, shorter telomere length is associated with some age-related diseases; in several studies short telomere length has also been associated to obesity in adults and adolescents. However the relationship between telomere complex functions and obesity is s...

journal_title：Molecular genetics and metabolism

authors： Carulli L,Anzivino C,Baldelli E,Zenobii MF,Rocchi MB,Bertolotti M

更新日期：2016-06-01 00:00:00

abstract：:We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and mitochondrial function, for whom conventional genetic and metabolic investigations for acute liver failure failed to yield a diagnosis. Whole exome sequencin...

journal_title：Molecular genetics and metabolism

authors： Santra S,Cameron JM,Shyr C,Zhang L,Drögemöller B,Ross CJ,Wasserman WW,Wevers RA,Rodenburg RJ,Gupte G,Preece MA,van Karnebeek CD

更新日期：2016-05-01 00:00:00

abstract：BACKGROUND:While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain. METHODS:Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I,...

journal_title：Molecular genetics and metabolism

authors： Lin HY,Chuang CK,Chen MR,Lin SM,Hung CL,Chang CY,Chiu PC,Tsai WH,Niu DM,Tsai FJ,Lin SJ,Hwu WL,Lin JL,Lin SP

更新日期：2016-04-01 00:00:00

abstract：:Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intracellular accumulat...

journal_title：Molecular genetics and metabolism

authors： Dearborn JT,Ramachandran S,Shyng C,Lu JY,Thornton J,Hofmann SL,Sands MS

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Gaucher Disease type 1 (GD1) often manifests in childhood. Early treatment with enzyme replacement therapy (ERT) may prevent disease complications. We report the assessment of velaglucerase alfa ERT in pediatric GD1 patients who participated in a long-term extension study (HGT-GCB-044, ClinicalTrials.gov Ide...

journal_title：Molecular genetics and metabolism

authors： Smith L,Rhead W,Charrow J,Shankar SP,Bavdekar A,Longo N,Mardach R,Harmatz P,Hangartner T,Lee HM,Crombez E,Pastores GM

更新日期：2016-02-01 00:00:00

abstract：:Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases (LSD), characterized by the deficiency of a lysosomal enzyme responsible for the degradation of glycosaminoglycans (GAG). This deficiency leads to the lysosomal accumulation of partially degraded GAG. Nevertheless, deficiency of a single lysosomal en...

journal_title：Molecular genetics and metabolism

authors： Salazar DA,Rodríguez-López A,Herreño A,Barbosa H,Herrera J,Ardila A,Barreto GE,González J,Alméciga-Díaz CJ

更新日期：2016-02-01 00:00:00

abstract：:In lysosomal glycosphingolipid storage disorders, marked elevations in corresponding glycosphingoid bases (lyso-glycosphingolipids) have been reported, such as galactosylsphingosine in Krabbe disease, glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease. Using LC–MS/MS, we comparatively...

journal_title：Molecular genetics and metabolism

authors： Ferraz MJ,Marques AR,Gaspar P,Mirzaian M,van Roomen C,Ottenhoff R,Alfonso P,Irún P,Giraldo P,Wisse P,Sá Miranda C,Overkleeft HS,Aerts JM

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:The etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. METHODS AND RESULTS:Here we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcino...

journal_title：Molecular genetics and metabolism

authors： Stender S,Chakrabarti RS,Xing C,Gotway G,Cohen JC,Hobbs HH

更新日期：2015-12-01 00:00:00

abstract：BACKGROUND:Obstructive sleep apnea syndrome (OSAS) is very common in mucopolysaccharidosis I (MPS I). Hematopoietic stem cell transplantation (HSCT) is the preferred treatment for patients with severe MPS I diagnosed early in life. The protective effect of HSCT on the development of long term OSAS is not known. METHOD...

journal_title：Molecular genetics and metabolism

authors： Moreau J,Brassier A,Amaddeo A,Neven B,Caillaud C,Chabli A,Fernandez-Bolanos M,Olmo J,Valayannopoulos V,Fauroux B

更新日期：2015-12-01 00:00:00

abstract：:Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by se...

journal_title：Molecular genetics and metabolism

authors： Taillandier A,Domingues C,De Cazanove C,Porquet-Bordes V,Monnot S,Kiffer-Moreira T,Rothenbuhler A,Guggenbuhl P,Cormier C,Baujat G,Debiais F,Capri Y,Cohen-Solal M,Parent P,Chiesa J,Dieux A,Petit F,Roume J,Isnard M,Co

更新日期：2015-11-01 00:00:00

abstract：:Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

journal_title：Molecular genetics and metabolism

authors： Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

更新日期：2015-08-01 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of hepatic phenylalanine hydroxylase (PAH) leading to increased levels of phenylalanine in the plasma. Phenylalanine levels and phenylalanine hydroxylase (PAH) activity monitoring are currently limited to conventional blood dot tes...

journal_title：Molecular genetics and metabolism

authors： Turki A,Murthy G,Ueda K,Cheng B,Giezen A,Stockler-Ipsiroglu S,Elango R

更新日期：2015-06-01 00:00:00

abstract：:Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene caus...

journal_title：Molecular genetics and metabolism

authors： Missaglia S,Tasca E,Angelini C,Moro L,Tavian D

更新日期：2015-06-01 00:00:00

abstract：:Quantification of ammonia in whole blood has applications in the diagnosis and management of many hepatic diseases, including cirrhosis and rare urea cycle disorders, amounting to more than 5 million patients in the United States. Current techniques for ammonia measurement suffer from limited range, poor resolution, f...

journal_title：Molecular genetics and metabolism

authors： Ayyub OB,Behrens AM,Heligman BT,Natoli ME,Ayoub JJ,Cunningham G,Summar M,Kofinas P

更新日期：2015-06-01 00:00:00

abstract：BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

journal_title：Molecular genetics and metabolism

authors： Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

更新日期：2015-05-01 00:00:00

abstract：UNLABELLED:The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild beha...

journal_title：Molecular genetics and metabolism

authors： Yund B,Rudser K,Ahmed A,Kovac V,Nestrasil I,Raiman J,Mamak E,Harmatz P,Steiner R,Lau H,Vekaria P,Wozniak JR,Lim KO,Delaney K,Whitley C,Shapiro EG

更新日期：2015-02-01 00:00:00

abstract：:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA). Traditionally, heterozygotes were considered asymptomatic carriers of FD, but it is now apparent that the asymptomatic female carrier is the exception and most heterozygotes suffer significant multisystem...

journal_title：Molecular genetics and metabolism

authors： Fuller M,Mellett N,Hein LK,Brooks DA,Meikle PJ

更新日期：2015-02-01 00:00:00

abstract：:The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also...

journal_title：Molecular genetics and metabolism

authors： Adams DR,Yuan H,Holyoak T,Arajs KH,Hakimi P,Markello TC,Wolfe LA,Vilboux T,Burton BK,Fajardo KF,Grahame G,Holloman C,Sincan M,Smith AC,Wells GA,Huang Y,Vega H,Snyder JP,Golas GA,Tifft CJ,Boerkoel CF,Hanson RW,

更新日期：2014-11-01 00:00:00

abstract：:Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of develop...

journal_title：Molecular genetics and metabolism

authors： Burrage LC,Tang S,Wang J,Donti TR,Walkiewicz M,Luchak JM,Chen LC,Schmitt ES,Niu Z,Erana R,Hunter JV,Graham BH,Wong LJ,Scaglia F

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents the synthesis of citr...

journal_title：Molecular genetics and metabolism

authors： Sprouse C,King J,Helman G,Pacheco-Colón I,Shattuck K,Breeden A,Seltzer R,VanMeter JW,Gropman AL

更新日期：2014-09-01 00:00:00

abstract：:Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnos...

journal_title：Molecular genetics and metabolism

authors： Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

更新日期：2014-09-01 00:00:00

abstract：:Mucolipidosis type II is an autosomal recessive lysosomal storage disease caused by N-acetylglucosamine-1-phosphotransferese deficiency. We report here pathological findings of an autopsy case of mucolipidosis type II. The patient was an 8-year-old boy with mucolipidosis type II and was complicated with hypertrophic c...

journal_title：Molecular genetics and metabolism

authors： Sato Y,Kobayashi H,Sato S,Shimada Y,Fukuda T,Eto Y,Ohashi T,Ida H

更新日期：2014-07-01 00:00:00

abstract：:Citrullinemia type I is a urea cycle disorder caused by autosomal recessive mutations in argininosuccinate synthetase 1 (ASS1). In the classical form of this disease, symptoms manifest during the neonatal period as progressive lethargy, poor feeding, and central nervous system depression secondary to hyperammonemia. I...

journal_title：Molecular genetics and metabolism

authors： Miller MJ,Soler-Alfonso CR,Grund JE,Fang P,Sun Q,Elsea SH,Sutton VR

更新日期：2014-07-01 00:00:00

abstract：OBJECTIVE:To evaluate glycerol phenylbutyrate (GPB) in the treatment of pediatric patients with urea cycle disorders (UCDs). STUDY DESIGN:UCD patients (n=26) ages 2months through 17years were treated with GPB and sodium phenylbutyrate (NaPBA) in two short-term, open-label crossover studies, which compared 24-hour ammo...

journal_title：Molecular genetics and metabolism

authors： Berry SA,Lichter-Konecki U,Diaz GA,McCandless SE,Rhead W,Smith W,Lemons C,Nagamani SC,Coakley DF,Mokhtarani M,Scharschmidt BF,Lee B

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these is...

journal_title：Molecular genetics and metabolism

authors： Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

更新日期：2014-02-01 00:00:00

abstract：:Lysosomes require the presence of many specialized proteins to facilitate their roles in cellular maintenance. One such protein that has proven to be an important player in the lysosomal field is lysosomal integral membrane protein-2 (LIMP-2), encoded by the gene SCARB2. LIMP-2 is required for the normal biogenesis an...

journal_title：Molecular genetics and metabolism

authors： Gonzalez A,Valeiras M,Sidransky E,Tayebi N

更新日期：2014-02-01 00:00:00

abstract：:The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate. This review provides a summary of glycan biomarkers that have been used to characterize anim...

journal_title：Molecular genetics and metabolism

authors： Lawrence R,Brown JR,Lorey F,Dickson PI,Crawford BE,Esko JD

更新日期：2014-02-01 00:00:00

abstract：:We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 ...

journal_title：Molecular genetics and metabolism

authors： Stockler-Ipsiroglu S,van Karnebeek C,Longo N,Korenke GC,Mercimek-Mahmutoglu S,Marquart I,Barshop B,Grolik C,Schlune A,Angle B,Araújo HC,Coskun T,Diogo L,Geraghty M,Haliloglu G,Konstantopoulou V,Leuzzi V,Levtova A,Mack

更新日期：2014-01-01 00:00:00

abstract：:Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied. We sought to further characterize developmental neurology in children with molecularly-con...

journal_title：Molecular genetics and metabolism

authors： Weisfeld-Adams JD,Bender HA,Miley-Åkerstedt A,Frempong T,Schrager NL,Patel K,Naidich TP,Stein V,Spat J,Towns S,Wasserstein MP,Peter I,Frank Y,Diaz GA

更新日期：2013-11-01 00:00:00

abstract：:McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency, which leads to a severe limitation in the rate of adenosine triphosphate (ATP) resynthesis. Compensatory flux through the myoadenylate deaminase > > xanthine oxidase pathway should result in higher oxidative stress in skeletal muscle; how...

journal_title：Molecular genetics and metabolism

authors： Kitaoka Y,Ogborn DI,Nilsson MI,Mocellin NJ,MacNeil LG,Tarnopolsky MA

更新日期：2013-11-01 00:00:00

abstract：:Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were stud...

journal_title：Molecular genetics and metabolism

authors： Gaeta M,Barca E,Ruggeri P,Minutoli F,Rodolico C,Mazziotti S,Milardi D,Musumeci O,Toscano A

更新日期：2013-11-01 00:00:00

abstract：:Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-α (G6Pase-α or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. Two efficacious recombinant adeno-a...

journal_title：Molecular genetics and metabolism

authors： Lee YM,Pan CJ,Koeberl DD,Mansfield BC,Chou JY

更新日期：2013-11-01 00:00:00

abstract：:Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B12 (cobalamin) into its active coenzyme adenosylcobalamin (AdoCbl). Mutations in the MMAB gene affect the function of the enzyme ATP:cob(I)alamin ...

journal_title：Molecular genetics and metabolism

authors： Illson ML,Dempsey-Nunez L,Kent J,Huang Q,Brebner A,Raff ML,Watkins D,Gilfix BM,Wittwer CT,Rosenblatt DS

更新日期：2013-09-01 00:00:00