Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice.

abstract：:N-Acetylaspartate (NAA) is an important osmolyte in the vertebrate brain that participates in an intercompartmental metabolic cycle. It is synthesized primarily in neurons from L-aspartate (Asp) and acetyl-CoA and, after its regulated release, it is hydrolysed by aspartoacylase in an oligodendrocyte compartment to pro...

journal_title：Journal of inherited metabolic disease

authors： Baslow MH,Suckow RF,Hungund BL

更新日期：2000-11-01 00:00:00

abstract：:In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment,...

journal_title：Journal of inherited metabolic disease

authors： Touati G,Valayannopoulos V,Mention K,de Lonlay P,Jouvet P,Depondt E,Assoun M,Souberbielle JC,Rabier D,Ogier de Baulny H,Saudubray JM

更新日期：2006-04-01 00:00:00

abstract：:Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

journal_title：Journal of inherited metabolic disease

authors： Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

更新日期：2005-01-01 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：:Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionist...

journal_title：Journal of inherited metabolic disease

authors： Hohenfellner K,Rauch F,Ariceta G,Awan A,Bacchetta J,Bergmann C,Bechtold S,Cassidy N,Deschenes G,Elenberg E,Gahl WA,Greil O,Harms E,Herzig N,Hoppe B,Koeppl C,Lewis MA,Levtchenko E,Nesterova G,Santos F,Schlingmann K

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

journal_title：Journal of inherited metabolic disease

authors： Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

更新日期：2015-09-01 00:00:00

abstract：:A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

journal_title：Journal of inherited metabolic disease

authors： Michelakakis H,Dimitriou E,Labadaridis I

更新日期：2004-01-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay,...

journal_title：Journal of inherited metabolic disease

authors： Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

更新日期：2015-09-01 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：:Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in ge...

journal_title：Journal of inherited metabolic disease

authors： Jaeken J,Péanne R

更新日期：2017-07-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

journal_title：Journal of inherited metabolic disease

authors： Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

更新日期：2011-12-01 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：:Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine deple...

journal_title：Journal of inherited metabolic disease

authors： Schiff M,Ogier de Baulny H,Bard G,Barlogis V,Hamel C,Moat SJ,Odent S,Shortland G,Touati G,Giraudier S

更新日期：2010-06-01 00:00:00

abstract：:Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. I...

journal_title：Journal of inherited metabolic disease

authors： Boczonadi V,Bansagi B,Horvath R

更新日期：2015-05-01 00:00:00

abstract：:Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study a...

journal_title：Journal of inherited metabolic disease

authors： Barrett MJ,Giraldo P,Capablo JL,Alfonso P,Irun P,Garcia-Rodriguez B,Pocovi M,Pastores GM

更新日期：2013-05-01 00:00:00

abstract：:The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5-year-old male Roma child with homozygous deletion of 844C of the SLC22A5 gene, presenting with hepatopathy and cardiomyopathy. Besides the dramatic decrease of plasma free carnitine (1.38 vs 32.7 mumol/L in controls) all plasma carnit...

journal_title：Journal of inherited metabolic disease

authors： Komlósi K,Magyari L,Talián GC,Nemes E,Káposzta R,Mogyorósy G,Méhes K,Melegh B

更新日期：2009-12-01 00:00:00

abstract：:Niemann-Pick disease type C (NPC) is a neurovisceral storage disorder with an unknown primary deficiency. Somatic cell hybridization experiments using human cultured fibroblasts have shown that two complementation groups (NPC-alpha and NPC-beta) are associated with the biochemical and clinical phenotypes comprising NP...

journal_title：Journal of inherited metabolic disease

authors： Steinberg SJ,Mondal D,Fensom AH

更新日期：1996-01-01 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：:A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both bloo...

journal_title：Journal of inherited metabolic disease

authors： Tsuchiyama A,Oyanagi K,Hirano S,Tachi N,Sogawa H,Wagatsuma K,Nakao T,Tsugawa S,Kawamura Y

更新日期：1983-01-01 00:00:00

abstract：:We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

journal_title：Journal of inherited metabolic disease

authors： Balwani M,Grace ME,Desnick RJ

更新日期：2011-06-01 00:00:00

abstract：:A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

journal_title：Journal of inherited metabolic disease

authors： Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

更新日期：2002-09-01 00:00:00

abstract：:Danon disease is an X-linked disorder resulting from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene. We report a male patient with skeletal myopathy, mental retardation, and massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation. Immunohistochemistry of skeletal muscl...

journal_title：Journal of inherited metabolic disease

authors： Regelsberger G,Höftberger R,Pickl WF,Zlabinger GJ,Körmöczi U,Salzer-Muhar U,Luckner D,Bodamer OA,Mayr JA,Muss WH,Budka H,Bernheimer H

更新日期：2009-12-01 00:00:00

abstract：:Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

journal_title：Journal of inherited metabolic disease

authors： Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

更新日期：2014-01-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies. A founder effect for a few specific mutations in geographic regions where prevalence is high (Sweden, The Netherlands, Switzerland) has be...

journal_title：Journal of inherited metabolic disease

authors： Paradisi I,Arias S

更新日期：2010-12-01 00:00:00

abstract：:Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for affected individuals. ...

journal_title：Journal of inherited metabolic disease

authors： Balasubramaniam S,Duley JA,Christodoulou J

更新日期：2014-09-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 4...

journal_title：Journal of inherited metabolic disease

authors： Claerhout H,Witters P,Régal L,Jansen K,Van Hoestenberghe MR,Breckpot J,Vermeersch P

更新日期：2018-01-01 00:00:00

abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

journal_title：Journal of inherited metabolic disease

authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

更新日期：2005-01-01 00:00:00

abstract：:Primary hyperoxaluria type I (PH1) is a rare disease caused by the deficit of liver alanine-glyoxylate aminotransferase (AGT). AGT prevents oxalate formation by converting peroxisomal glyoxylate to glycine. When the enzyme is deficient, progressive calcium oxalate stones deposit first in the urinary tract and then at ...

journal_title：Journal of inherited metabolic disease

authors： Dindo M,Oppici E,Dell'Orco D,Montone R,Cellini B

更新日期：2018-03-01 00:00:00

abstract：:6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU we...

journal_title：Journal of inherited metabolic disease

authors： Cromby CH,Manning NJ,Pollitt RJ,Powell S,Bennett MJ

更新日期：1994-01-01 00:00:00

abstract：:Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI ...

journal_title：Journal of inherited metabolic disease

authors： Hayasaka K,Narisawa K,Ohura T,Ogawa E,Dahl HH

更新日期：1990-01-01 00:00:00