当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Neurocognitive profiles in MSUD school-age patients.

Neurocognitive profiles in MSUD school-age patients.

Abstract：

:Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available. The aim of this study was to analyse neurocognitive profiles of French MSUD patients. This was a multicentre retrospective study on MSUD patients who underwent neurocognitive evaluation at primary school age. Twenty-one patients with classical neonatal onset MSUD were included. The patients' mean age at the time of evaluation was 8.7 years. The mean intellectual quotient (IQ) score was in the normal range (95.1 ± 12.6). In a subset of eight patients, a consistent developmental pattern of higher verbal than performance IQ was observed (mean of the difference 25.7 ± 8.7, p < 0.0001). No correlation could be established between this pattern and long-term metabolic balance (BCAA blood levels), or severity of acute metabolic imbalances, or leucine blood levels at diagnosis and time to toxin removal procedure. These data show that some MSUD patients may exhibit an abnormal neurocognitive profile with higher verbal than performance abilities. This might suggest an executive dysfunction disorder that would need to be further investigated by specialized testing. This pattern is important to detect in MSUD, as appropriate neuropsychological treatment strategies should be proposed.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Bouchereau J,Leduc-Leballeur J,Pichard S,Imbard A,Benoist JF,Abi Warde MT,Arnoux JB,Barbier V,Brassier A,Broué P,Cano A,Chabrol B,Damon G,Gay C,Guillain I,Habarou F,Lamireau D,Ottolenghi C,Paermentier L,Sabourdy F,

doi

10.1007/s10545-017-0033-7

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

377-383

issue

3

eissn

0141-8955

issn

1573-2665

pii

10.1007/s10545-017-0033-7

journal_volume

40

pub_type

杂志文章,多中心研究

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Direct alteration of a gene in the human genome.

    abstract：:Direct alteration of a gene in the human genome requires an understanding of the role of the gene in metabolism. A gene may need to be introduced into a specific tissue or alternatively it may be possible to use accessible tissue such as bone marrow. The level of gene expression required also needs to be known as does...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800862

    authors： Smithies O

    更新日期：1986-01-01 00:00:00

  • The inherited leukodystrophies: a clinical overview.

    abstract：:The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leuko...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711905

    authors： Aicardi J

    更新日期：1993-01-01 00:00:00

  • 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

    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

    pub_type： 杂志文章

    doi：10.1007/BF00735400

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

    更新日期：1994-01-01 00:00:00

  • Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

    abstract：:The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-p...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-017-0131-6

    authors： Coene KLM,Kluijtmans LAJ,van der Heeft E,Engelke UFH,de Boer S,Hoegen B,Kwast HJT,van de Vorst M,Huigen MCDG,Keularts IMLW,Schreuder MF,van Karnebeek CDM,Wortmann SB,de Vries MC,Janssen MCH,Gilissen C,Engel J,Wevers RA

    更新日期：2018-05-01 00:00:00

  • A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis.

    abstract：:Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0473-3

    authors： Gu YH,Kodama H,Shiga K,Nakata S,Yanagawa Y,Ozawa H

    更新日期：2005-01-01 00:00:00

  • Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

    abstract：:Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases caused by mutations in lysosomal enzymes involved in degradation of glycosaminoglycans (GAGs). Patients with MPS grow poorly and become physically disabled due to systemic bone disease. While many of the major skeletal effects in mouse models for MP...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9522-x

    authors： Rowan DJ,Tomatsu S,Grubb JH,Montaño AM,Sly WS

    更新日期：2013-03-01 00:00:00

  • Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

    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

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0351-7

    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

  • Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.

    abstract：:Eighty-nine protein-loading tests were performed in 80 patients with an increased blood phenylalanine concentration. The amount of protein corresponding to 0.18 g phenylalanine/kg body weight per day was calculated and given for 3 days, during which time eight phenylalanine and eight tyrosine blood concentrations were...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799751

    authors： Lutz P,Schmidt H,Frey G,Bickel H

    更新日期：1982-01-01 00:00:00

  • Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

    abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9513-y

    authors： Haack TB,Makowski C,Yao Y,Graf E,Hempel M,Wieland T,Tauer U,Ahting U,Mayr JA,Freisinger P,Yoshimatsu H,Inui K,Strom TM,Meitinger T,Yonezawa A,Prokisch H

    更新日期：2012-11-01 00:00:00

  • Self-rated psychosocial consequences and quality of life in the acute porphyrias.

    abstract：:A battery of self-report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non-clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable rep...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1012901607040

    authors： Millward LM,Kelly P,Deacon A,Senior V,Peters TJ

    更新日期：2001-12-01 00:00:00

  • Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

    abstract：:Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-1265-y

    authors： Illsinger S,Lücke T,Hartmann H,Mengel E,Müller-Forell W,Donnerstag F,Das AM

    更新日期：2009-12-01 00:00:00

  • Novel therapies for mucopolysaccharidosis type III.

    abstract：:Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambul...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1002/jimd.12316

    authors： Seker Yilmaz B,Davison J,Jones SA,Baruteau J

    更新日期：2021-01-01 00:00:00

  • Quantitative retrospective natural history modeling for orphan drug development.

    abstract：:The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Consortium in 2017, the purpose of this paper is to review the recently d...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1002/jimd.12304

    authors： Garbade SF,Zielonka M,Komatsuzaki S,Kölker S,Hoffmann GF,Hinderhofer K,Mountford WK,Mengel E,Sláma T,Mechler K,Ries M

    更新日期：2021-01-01 00:00:00

  • Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.

    abstract：:Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. Enzyme replacement therapy (ERT) in adult AGU mice with AGA removes the accumulating substance aspartylglucosamine from and reverses pathology in ma...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-010-9158-7

    authors： Dunder U,Valtonen P,Kelo E,Mononen I

    更新日期：2010-10-01 00:00:00

  • Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

    abstract：INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12297

    authors： Hörster F,Tuncel AT,Gleich F,Plessl T,Froese SD,Garbade SF,Kölker S,Baumgartner MR,Additional Contributors from E-IMD.

    更新日期：2021-01-01 00:00:00

  • Diagnosing mucopolysaccharidosis IVA.

    abstract：:Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of bioc...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9587-1

    authors： Wood TC,Harvey K,Beck M,Burin MG,Chien YH,Church HJ,D'Almeida V,van Diggelen OP,Fietz M,Giugliani R,Harmatz P,Hawley SM,Hwu WL,Ketteridge D,Lukacs Z,Miller N,Pasquali M,Schenone A,Thompson JN,Tylee K,Yu C,Hendri

    更新日期：2013-03-01 00:00:00

  • Role of miRNAs in human disease and inborn errors of metabolism.

    abstract：:MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-017-0018-6

    authors： Rivera-Barahona A,Pérez B,Richard E,Desviat LR

    更新日期：2017-07-01 00:00:00

  • View from inside.

    abstract：: ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 社论

    doi：10.1007/s10545-018-0214-z

    authors： Halai J

    更新日期：2018-11-01 00:00:00

  • Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A source.

    abstract：:Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r = 0.75, p less than 0.01). Compared to leukocy...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01805619

    authors： Buchalter MS,Wannmacher CM,Wajner M

    更新日期：1984-01-01 00:00:00

  • Type I hereditary tyrosinaemia: presentation of 11 cases.

    abstract：:Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799947

    authors： Coşkun T,Ozalp I,Koçak N,Yüce A,Caglar M,Berger R

    更新日期：1991-01-01 00:00:00

  • Long term outcome of MPI-CDG patients on D-mannose therapy.

    abstract：:Mannose phosphate isomerase MPI-CDG (formerly CDG-1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D-mannose. We retrospectively reviewed long-term outcomes of patients with MPI-CDG, all but one of whom were treated with D-mannose. Clinical, biological, and histological data ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12289

    authors： Girard M,Douillard C,Debray D,Lacaille F,Schiff M,Vuillaumier-Barrot S,Dupré T,Fabre M,Damaj L,Kuster A,Torre S,Mention K,McLin V,Dobbelaere D,Borgel D,Bauchard E,Seta N,Bruneel A,De Lonlay P

    更新日期：2020-11-01 00:00:00

  • Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).

    abstract：:Mixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross-sectional studies have demonstrated increases in intermediate-density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein B-100 (apo B) metab...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1012407609063

    authors： Wierzbicki AS,Watt GF,Lynas J,Winder AF,Wray R

    更新日期：2001-10-01 00:00:00

  • Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe.

    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

    pub_type： 杂志文章

    doi：10.1007/BF01800212

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

    更新日期：1990-01-01 00:00:00

  • Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

    abstract：BACKGROUND:A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospecti...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9659-2

    authors： Palecek T,Honzikova J,Poupetova H,Vlaskova H,Kuchynka P,Golan L,Magage S,Linhart A

    更新日期：2014-05-01 00:00:00

  • Familial combined hyperlipidaemia: use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver.

    abstract：:We have assessed very low-density lipoprotein apolipoprotein B production, using [15N]glycine as an endogenous marker in a 9-hour primed constant infusion protocol, in four adult male subjects with familial combined hyperlipidaemia and in four normolipidaemic adult male controls. The mean very low-density lipoprotein ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800473

    authors： Cortner JA,Coates PM,Bennett MJ,Cryer DR,Le NA

    更新日期：1991-01-01 00:00:00

  • Simple method for detection of mutations causing hereditary fructose intolerance.

    abstract：:Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1022043307569

    authors： Kullberg-Lindh C,Hannoun C,Lindh M

    更新日期：2002-11-01 00:00:00

  • Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.

    abstract：:Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799839

    authors： Parnet JM,Divry P,Vianey-Saban C,Mathieu M

    更新日期：1996-01-01 00:00:00

  • Lactic acidosis in long-chain fatty acid beta-oxidation disorders.

    abstract：:Among the many disorders of fatty acid beta-oxidation known today, the disorders of long-chain fatty acid oxidation are the most severe and life-threatening. One remarkable abnormality, not observed in, for instance, medium-chain acyl-CoA dehydrogenase deficiency, is the moderate to severe lactic acidaemia in long-cha...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005480516801

    authors： Ventura FV,Ruiter JP,IJlst L,de Almeida IT,Wanders RJ

    更新日期：1998-08-01 00:00:00

  • Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

    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

    pub_type： 杂志文章

    doi：10.1007/s10545-017-0132-5

    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

  • Blood-brain barrier structure and function and the challenges for CNS drug delivery.

    abstract：:The neurons of the central nervous system (CNS) require precise control of their bathing microenvironment for optimal function, and an important element in this control is the blood-brain barrier (BBB). The BBB is formed by the endothelial cells lining the brain microvessels, under the inductive influence of neighbour...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-013-9608-0

    authors： Abbott NJ

    更新日期：2013-05-01 00:00:00