Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

abstract：BACKGROUND:The number of newborns and the number of disorders detected by large-scale screening programs has increased dramatically in the last decade. Newborn screening is a multi-step process requiring confirmatory testing to establish and refine a diagnosis. Whereas screening cutoffs are established to detect all ca...

journal_title：Molecular genetics and metabolism

authors： Oladipo OO,Weindel AL,Saunders AN,Dietzen DJ

更新日期：2011-12-01 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：:Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a...

journal_title：Molecular genetics and metabolism

authors： Futerman AH,Platt FM

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:Sapropterin dihydrochloride (BH4, tetrahydrobiopterin) can lower plasma phenylalanine (Phe) concentrations for a subset of patients with phenylketonuria (PKU), an inborn error of metabolism. Studies suggest that monoamine neurotransmitter concentrations are low in PKU patients. Sapropterin functions as a cof...

journal_title：Molecular genetics and metabolism

authors： Douglas TD,Jinnah HA,Bernhard D,Singh RH

更新日期：2013-07-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPS IIIA) is a specific lysosomal storage disorder caused by an enzyme deficiency in sulphamidase, which is required for the degradation of heparan sulphate glycosaminoglycan (gag). This deficiency results in widespread gag storage and leads to severe CNS degeneration and mild somatic ...

journal_title：Molecular genetics and metabolism

authors： Roberts AL,Rees MH,Klebe S,Fletcher JM,Byers S

更新日期：2007-09-01 00:00:00

abstract：:Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

journal_title：Molecular genetics and metabolism

authors： Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

更新日期：2004-11-01 00:00:00

abstract：:The orphan nuclear receptor DAX1 (dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1), encoded by the NR0B1 gene, plays important roles in the development of the hypothalamic-pituitary-adrenal/gonadal (HPAG) axis as well as in sex determination. Mutations in NR0B1 cause the X-linked cytomegal...

journal_title：Molecular genetics and metabolism

authors： Ho J,Zhang YH,Huang BL,McCabe ER

更新日期：2004-12-01 00:00:00

abstract：:Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have ...

journal_title：Molecular genetics and metabolism

authors： Adams PC

更新日期：2000-09-01 00:00:00

abstract：:Resveratrol (RSV) is a small compound first identified as an activator of sirtuin 1 (SIRT1), a key factor in mediating the effects of caloric restriction. Since then, RSV received great attention for its widespread beneficial effects on health and in connection to many diseases. RSV improves the metabolism and the mit...

journal_title：Molecular genetics and metabolism

authors： Dembic M,Andersen HS,Bastin J,Doktor TK,Corydon TJ,Sass JO,Lopes Costa A,Djouadi F,Andresen BS

更新日期：2019-01-01 00:00:00

abstract：:Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included ...

journal_title：Molecular genetics and metabolism

authors： Janzen D,Nguyen M

更新日期：2010-01-01 00:00:00

abstract：BACKGROUND:Late-onset Pompe disease (LOPD) is a rare cause of declining proximal muscle strength and respiratory function that can also affect other organ systems. The development of enzyme replacement therapy has made it one of the few inherited muscle disorders with treatment, but clinical response is difficult to as...

journal_title：Molecular genetics and metabolism

authors： Hobson-Webb LD,Proia AD,Thurberg BL,Banugaria S,Prater SN,Kishnani PS

更新日期：2012-08-01 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：:Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochondrial DNA depletion syndrome (MDDS). Currently, only point mutations a...

journal_title：Molecular genetics and metabolism

authors： Zhang S,Li FY,Bass HN,Pursley A,Schmitt ES,Brown BL,Brundage EK,Mardach R,Wong LJ

更新日期：2010-01-01 00:00:00

abstract：:Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder of fatty acid oxidation associated with high mortality. Two female newborns of different ethnic origin (the first Anglo-Celtic and the second Palestinian Arab) both died after sudden collapse on day 2 of life. Both had elevated bloodspot long-cha...

journal_title：Molecular genetics and metabolism

authors： Korman SH,Pitt JJ,Boneh A,Dweikat I,Zater M,Meiner V,Gutman A,Brivet M

更新日期：2006-12-01 00:00:00

abstract：:We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44). A deletion of 4 nucleotides in the exon 6/intron 6 splice junc...

journal_title：Molecular genetics and metabolism

authors： Coulter-Mackie MB,Rumsby G,Applegarth DA,Toone JR

更新日期：2001-11-01 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: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：:This report compares statistical models based on molecular and inferred haplotypes of the human paraoxonase-1 gene (PON1). In a study of 402 women comprising three race/ethnicities, 137 women had ambiguous inferred haplotypes. The inferred haplotypes (the one with highest posterior probability) for 20 of these women d...

journal_title：Molecular genetics and metabolism

authors： Wallenstein S,Chen J,Wetmur JG

更新日期：2006-11-01 00:00:00

abstract：:Since the last, 6th, International Congress on Neuronal Ceroid-Lipofuscinoses, neuropathological advances in neuronal ceroid lipofuscinoses (NCL) have been made in several areas: (1) In adult NCL (ANCL) lipopigments have now been repeatedly confirmed to contain subunit c of mitochondrial ATP synthase and even sphingol...

journal_title：Molecular genetics and metabolism

authors： Goebel HH,Schochet SS,Jaynes M,Brück W,Kohlschütter A,Hentati F

更新日期：1999-04-01 00:00:00

abstract：:1,2,3-Benzenetricarboxylate (BTA) and n-butylmalonate (BM), specific inhibitors of the mitochondrial tricarboxylate and dicarboxylate carrier, respectively, have been used to study the contribution of citrate export from mitochondria to the accumulation of fat in 3T3-L1 cells. Continuous treatment of the cells with BT...

journal_title：Molecular genetics and metabolism

authors： Kajimoto K,Terada H,Baba Y,Shinohara Y

更新日期：2005-05-01 00:00:00

abstract：:Cystic Fibrosis (CF) is an autosomal recessive disorder affecting 1/2000-4000 newborns in Caucasian populations. This lethal disease mainly affects respiratory and digestive organs as well as fertility in man. So far, the CF prevalence and mutational spectrum have showed specificity among populations and regions, maki...

journal_title：Molecular genetics and metabolism

authors： Ramírez AM,Ramos MD,Jiménez J,Ghio A,de Botelli MM,Rezzónico CA,Marqués I,Pereyro S,Casals T,de Kremer RD

更新日期：2006-04-01 00:00:00

abstract：:We report a transient drop in plasma Hcy and Cys following a single oral dose of PteGlu. The thiol change was concomitant with both the peak plasma 5CH3H4PteGlu1 level (by HPLC) and the maximum plasma Lactobacillus casei activity which reflects absorption of unmodified PteGlu. The significant reciprocal association of...

journal_title：Molecular genetics and metabolism

authors： Lucock MD,Daskalakis I,Schorah CJ,Lumb CH,Oliver M,Devitt H,Wild J,Dowell AC,Levene MI

更新日期：1999-05-01 00:00:00

abstract：:Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...

journal_title：Molecular genetics and metabolism

authors： Boles RG,Stone ML

更新日期：2006-12-01 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：:In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this ...

journal_title：Molecular genetics and metabolism

authors： Baumstark A,Akhverdyan M,Schulze A,Reisert I,Vogel W,Just W

更新日期：2001-01-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of pro...

journal_title：Molecular genetics and metabolism

authors： Würde AE,Reunert J,Rust S,Hertzberg C,Haverkämper S,Nürnberg G,Nürnberg P,Lehle L,Rossi R,Marquardt T

更新日期：2012-04-01 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：:Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expressio...

journal_title：Molecular genetics and metabolism

authors： Anderson RA,Bryson GM,Parks JS

更新日期：1999-11-01 00:00:00

abstract：:We investigated the molecular basis of hereditary fructose intolerance (HFI) in 160 patients from 92 families by means of a PCR-based mutation screening strategy, consisting of restriction enzyme digestion and direct sequencing. Sixteen different mutations of the aldolase B (ALDOB) gene were identified in HFI patients...

journal_title：Molecular genetics and metabolism

authors： Davit-Spraul A,Costa C,Zater M,Habes D,Berthelot J,Broué P,Feillet F,Bernard O,Labrune P,Baussan C

更新日期：2008-08-01 00:00:00

abstract：:Glut-1 facilitates the diffusion of glucose across the blood-brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized in its most severe form by infantile seizures, developm...

journal_title：Molecular genetics and metabolism

authors： Levy B,Wang D,Ullner PM,Engelstad K,Yang H,Nahum O,Chung WK,De Vivo DC

更新日期：2010-06-01 00:00:00