Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

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：:Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of...

journal_title：Molecular genetics and metabolism

authors： Oishi K,Hirai T,Gelb BD,Diaz GA

更新日期：2001-06-01 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：:The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

journal_title：Molecular genetics and metabolism

authors： Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

更新日期：1999-08-01 00:00:00

abstract：:The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to elimi...

journal_title：Molecular genetics and metabolism

authors： Kallwass H,Carr C,Gerrein J,Titlow M,Pomponio R,Bali D,Dai J,Kishnani P,Skrinar A,Corzo D,Keutzer J

更新日期：2007-04-01 00:00:00

abstract：:Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral storage disease with neurodegeneration caused by mutations in either the NPC-1 or NPC-2 gene. The murine ortholog of NPC-1 is mutated in BALB/c npc(nih) and this mutant mouse shows equally conspicuous neurodegeneration and loss of neurons. Howe...

journal_title：Molecular genetics and metabolism

authors： Wu YP,Mizukami H,Matsuda J,Saito Y,Proia RL,Suzuki K

更新日期：2005-01-01 00:00:00

abstract：:Canine junctin is a 26-kDa transmembrane protein found in the sarcoplasmic reticulum (SR) membrane in cardiac and skeletal muscle. Junctin has recently been shown to bind directly to calsequestrin, the ryanodine receptor, and triadin. Junctin is thought to play a role in facilitating (and perhaps regulating) Ca(2+) re...

journal_title：Molecular genetics and metabolism

authors： Wetzel GT,Ding S,Chen F

更新日期：2000-03-01 00:00:00

abstract：:Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-M...

journal_title：Molecular genetics and metabolism

authors： Han SO,Haynes AC,Li S,Abraham DM,Kishnani PS,Steet R,Koeberl DD

更新日期：2020-02-01 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：:Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to...

journal_title：Molecular genetics and metabolism

authors： Teresa E,Lonardo F,Fiumara A,Lombardi C,Russo P,Zuppi C,Scarano G,Musumeci S,Gianfrancesco F

更新日期：2006-06-01 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：:Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuro...

journal_title：Molecular genetics and metabolism

authors： von Kleist L,Ariunbat K,Braren I,Stauber T,Storch S,Danyukova T

更新日期：2019-02-01 00:00:00

abstract：PURPOSE:To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. METHODS:Medical records were reviewed. Galactocerebrosidase activity was measured i...

journal_title：Molecular genetics and metabolism

authors： Puckett RL,Orsini JJ,Pastores GM,Wang RY,Chang R,Saavedra-Matiz CA,Torres PA,Zeng B,Caggana M,Lorey F,Abdenur JE

更新日期：2012-01-01 00:00:00

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：:Fabry disease is a lysosomal storage disease caused by deficient activity of the α-Galactosidase A (α-Gal A) enzyme, which leads to abnormal accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosome. Glycosphingolipids are known to be invariant Natural Killer T (iNKT) cell antigens. Sever...

journal_title：Molecular genetics and metabolism

authors： Macedo MF,Quinta R,Pereira CS,Sa Miranda MC

更新日期：2012-05-01 00:00:00

abstract：:Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantat...

journal_title：Molecular genetics and metabolism

authors： Kauppinen R,Glass IA,Aizencang G,Astrin KH,Atweh GF,Desnick RJ

更新日期：1998-09-01 00:00:00

abstract：:The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. MPS patients present with several somatic man...

journal_title：Molecular genetics and metabolism

authors： Scarpa M,Lourenço CM,Amartino H

更新日期：2017-12-01 00:00:00

abstract：:We report here the isolation, characterization, and chromosomal localization of the genes encoding the human and corresponding murine orthologue of solute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-amino-acid residue protein with a predicted molecular weight of 56 kDa that shares sequence simil...

journal_title：Molecular genetics and metabolism

authors： Eudy JD,Spiegelstein O,Barber RC,Wlodarczyk BJ,Talbot J,Finnell RH

更新日期：2000-12-01 00:00:00

abstract：:TRMU is a nuclear gene crucial for mitochondrial DNA translation by encoding tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, which thiolates mitochondrial tRNA. Biallelic pathogenic variants in TRMU are associated with transient infantile liver failure. Other less common presentations such as Leigh syndrom...

journal_title：Molecular genetics and metabolism

authors： Murali CN,Soler-Alfonso C,Loomes KM,Shah AA,Monteil D,Padilla CD,Scaglia F,Ganetzky R

更新日期：2021-01-14 00:00:00

abstract：:Ornithine transcarbamylase deficiency is a very heterogeneous urea cycle disorder resulting in hyperammonemia with various presentations from the neonatal period through adulthood. We performed a retrospective study in nine patients (four male/five female, age at diagnosis ranging from 6 days to 14 years) to evaluate ...

journal_title：Molecular genetics and metabolism

authors： Burlina AB,Ogier H,Korall H,Trefz FK

更新日期：2001-04-01 00:00:00

abstract：:The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical presentations and in the mechanisms by which these presentations result from the fundamental mutations. In the most common of the hyperuricemic metabolic disorders, deficiency of hypoxanthine phosphoribosyl transferase, the fund...

journal_title：Molecular genetics and metabolism

authors： Nyhan WL

更新日期：2005-09-01 00:00:00

abstract：:Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not be...

journal_title：Molecular genetics and metabolism

authors： Hanchard NA,Shchelochkov OA,Roy A,Wiszniewska J,Wang J,Popek EJ,Karpen S,Wong LJ,Scaglia F

更新日期：2011-07-01 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：:N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

journal_title：Molecular genetics and metabolism

authors： Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

更新日期：2010-01-01 00:00:00

abstract：:To elucidate the basis of mucopolysaccharidosis type VI (MPS VI) from the point of view of enzyme structure, we built structural models of mutant N-acetylgalactosamine-4-sulfatase (4S) resulting from 34 missense mutations (17 severe and 17 attenuated), and analyzed the influence of each amino acid replacement on the s...

journal_title：Molecular genetics and metabolism

authors： Saito S,Ohno K,Sugawara K,Sakuraba H

更新日期：2008-04-01 00:00:00

abstract：:The aim of this study was to investigate the genetic background of familial clustering of diabetes using genome-wide linkage analysis combined with exome sequencing. We recruited a Japanese family with a 3-generation history of diabetes. The family comprised 16 members, 13 having been diagnosed with diabetes. Nine mem...

journal_title：Molecular genetics and metabolism

authors： Tanaka D,Nagashima K,Sasaki M,Funakoshi S,Kondo Y,Yasuda K,Koizumi A,Inagaki N

更新日期：2013-05-01 00:00:00

abstract：:Mucopolysaccharidoses (MPSs) and mucolipidoses (ML) are groups of lysosomal storage disorders in which lysosomal hydrolases are deficient leading to accumulation of undegraded glycosaminoglycans (GAGs), throughout the body, subsequently resulting in progressive damage to multiple tissues and organs. Assays using tande...

journal_title：Molecular genetics and metabolism

authors： Kubaski F,Suzuki Y,Orii K,Giugliani R,Church HJ,Mason RW,Dũng VC,Ngoc CT,Yamaguchi S,Kobayashi H,Girisha KM,Fukao T,Orii T,Tomatsu S

更新日期：2017-03-01 00:00:00

abstract：RATIONALE:We previously reported that mitogen-activated protein kinase phosphatase-1 (MKP-1) expression is necessary for oxidized phospholipids to induce monocyte chemoattractant protein-1 (MCP-1) secretion by human aortic endothelial cells. We also reported that inhibition of tyrosine phosphatases including MKP-1 amel...

journal_title：Molecular genetics and metabolism

authors： Imaizumi S,Grijalva V,Priceman S,Wu L,Su F,Farias-Eisner R,Hama S,Navab M,Fogelman AM,Reddy ST

更新日期：2010-09-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the cysteine-rich protein (CRP) family and has been implicat...

journal_title：Molecular genetics and metabolism

authors： Mohapatra B,Jimenez S,Lin JH,Bowles KR,Coveler KJ,Marx JG,Chrisco MA,Murphy RT,Lurie PR,Schwartz RJ,Elliott PM,Vatta M,McKenna W,Towbin JA,Bowles NE

更新日期：2003-09-01 00:00:00

abstract：:Caenorhabditis elegans affords a model of primary mitochondrial dysfunction that provides insight into cellular adaptations which accompany mutations in nuclear genes that encode mitochondrial proteins. To this end, we characterized genome-wide expression profiles of C. elegans strains with mutations in nuclear-encode...

journal_title：Molecular genetics and metabolism

authors： Falk MJ,Zhang Z,Rosenjack JR,Nissim I,Daikhin E,Nissim I,Sedensky MM,Yudkoff M,Morgan PG

更新日期：2008-04-01 00:00:00