Abstract:
:Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales for parents and teachers as well as a school achievement scale. PKU patients, as a group, demonstrated more problems in task-oriented behaviour and average academic performance than did matched controls. Interestingly, whereas male PKU patients were rated significantly lower on introversion by their teachers, female patients were rated significantly higher on introversion and lower on extraversion than matched controls. This sex difference was also reflected in the relationship between measures of dietary control and the behaviour clusters, suggesting that male and female patients respond differently to elevated Phe levels or the stress associated with PKU. The teacher rating on average academic performance of the PKU patients was associated with recent level of dietary control, which suggests that it might be improved by more strict adherence to the diet. In addition, academic performance correlated negatively with the behaviour cluster negative task orientation. Further studies are recommended to obtain a more complete evaluation of this relationship and to replicate the current findings on larger samples. Over the years a number of studies have examined behaviour and school achievement in patients with early treated phenylketonuria (PKU; McKusick 261600). In general, these studies have found that despite early treatment with a phenylalanine (Phe)-restricted diet, PKU patients demonstrate more behavioural and school problems than do healthy controls. The behaviour problems include both internalizing symptoms (e.g. solitary, unresponsive, anxious, depressed mood: Pietz et al 1997; Smith et al 1988; Weglage et al 1992) and externalizing symptoms (e.g. hyperactive, talkative, impulsive, restless: Hendrikx et al 1994; Kalverboer et al 1994; Realmuto et al 1986; Smith et al 1988), but not antisocial or socially negative symptoms (e.g. lying, teasing, disobedience: Kalverboer et al 1994; Pietz et al 1997; Smith et al 1988). With respect to school achievement, studies have shown that patients with early treated PKU more often repeat classes or need special tutoring (Berry et al 1979; Brunner et al 1983; Koch et al 1987; Rey et al 1996; Verkerk 1995), have to work harder than healthy controls to achieve the same results (Weglage et al 1993), or have specific deficits in arithmetic achievement scores (Azen et al 1991; Berry et al 1979; Fishler et al 1987; Koch et al 1987; Weglage et al 1993). Nevertheless, many questions regarding the behavioural and school problems of patients with early treated PKU remain unanswered. For instance, the relationship between behavioural and school problems on the one hand and levels of dietary control on the other is still relatively unclear. The few studies that examined this relationship, have focused primarily on children in primary school (Azen et al 1991; Koch et al 1987; Smith et al 1988). Furthermore, although several psychological studies have shown that the pattern of behavioural problems varies by sex (see Prior et al 1999a for a discussion), so far very few studies have examined this issue in PKU patients and results are contradictory (Kalverboer et al 1994; Pietz et al 1997; Smith et al 1988; Weglage et al 1992). In addition, so far no study has actually examined whether there is a relationship between the behavioural problems and school difficulties of PKU patients, even though this relationship has been well documented in the psychological literature (Prior et al 1999b; Richards et al 1995). The aim of the present study is therefore to examine these issues in patients with early and continuously treated PKU over a wide age range and in relation to dietary control. More specifically, school achievement as well as social and task-oriented behaviour (at home
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Stemerdink BA,Kalverboer AF,van der Meere JJ,van der Molen MW,Huisman J,de Jong LW,Slijper FM,Verkerk PH,van Spronsen FJdoi
10.1023/a:1005669610722keywords:
subject
Has Abstractpub_date
2000-09-01 00:00:00pages
548-62issue
6eissn
0141-8955issn
1573-2665journal_volume
23pub_type
杂志文章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
更新日期:2001-12-01 00:00:00
abstract::In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-018-0181-4
更新日期:2018-07-13 00:00:00
abstract::5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presente...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-006-0370-4
更新日期:2006-08-01 00:00:00
abstract::Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-008-0844-7
更新日期:2008-04-01 00:00:00
abstract::Aspartylglycosaminuria (AGU, McKusick 20840) is a metabolic disorder affecting the catabolism of glycoproteins. It was first described in 1967, by Jenner and Pollitt, in two mentally retarded English siblings. Subsequently several cases were reported from Finland (Palo and Mattsson, 1970; Autio, 1972; Autio et al., 19...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/BF02179139
更新日期:1982-01-01 00:00:00
abstract::The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-009-1150-8
更新日期:2009-08-01 00:00:00
abstract::Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01811317
更新日期:1983-01-01 00:00:00
abstract::Low-density lipoprotein receptor (LDLR) is a cell-surface glycoprotein that mediates specific uptake and catabolism of plasma LDL. Mutations located in the coding region of the LDLR gene affect the structure and function of the protein and cause familial hypercholesterolaemia (FH). Mutations in the regulatory regions ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/B:BOLI.0000037337.93335.c4
更新日期:2004-01-01 00:00:00
abstract::Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried bl...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-010-9065-y
更新日期:2010-12-01 00:00:00
abstract::GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic domain of t...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/B:BOLI.0000045759.12935.76
更新日期:2004-01-01 00:00:00
abstract::Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor 5'-deoxyadenosylcobalamin. The aim of this study was to evaluate which parameters best predicted the long-term outcome. Methods Standardized questionnaires were sen...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,多中心研究
doi:10.1007/s10545-009-1189-6
更新日期:2009-10-01 00:00:00
abstract::Erythrocyte thiamin metabolism and transport were investigated in 7 patients from Brazil, Israel and Italy suffering from thiamin-responsive megaloblastic anaemia (TRMA) associated with diabetes mellitus and sensorineural deafness. All patients discontinued thiamin therapy for 4-7 days before the investigation. TRMA p...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF00712009
更新日期:1994-01-01 00:00:00
abstract::This review surveys the potential application of gene therapy to metabolic diseases. Proof of principle has been achieved in the treatment of two inherited immunodeficiency conditions. A significant safety issue has also been observed. Several strategies are being experimentally tested for a number of metabolic diseas...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-006-0270-7
更新日期:2006-04-01 00:00:00
abstract::Gaucher disease (GD) is an autosomal recessive disorder characterized by defective function of glucocerebrosidase. GD presents a wide spectrum of manifestations, and patients and their relatives may develop neurological abnormalities more frequently than the general population. This study aims to determine the presenc...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-011-9298-4
更新日期:2011-06-01 00:00:00
abstract::Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...
journal_title:Journal of inherited metabolic disease
pub_type: 临床试验,杂志文章
doi:10.1023/a:1013996325720
更新日期:2001-12-01 00:00:00
abstract::Pyrroline-5-carboxylate reductase 1 (PYCR1) catalyzes the last step in proline synthesis. Deficiency of PYCR1, caused by a defect in PYCR1, was recently described in patients with cutis laxa, intrauterine growth retardation, developmental dysplasia of the hips and mental retardation. In this paper, we describe additio...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-011-9319-3
更新日期:2011-06-01 00:00:00
abstract::The different long-chain fatty acid oxidation defects present with similar heterogeneous clinical phenotypes of different severity. Organs mainly affected comprise the heart, liver, and skeletal muscles. All symptoms are reversible with sufficient energy supply. In some long-chain fatty acid oxidation defects, disease...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-010-9090-x
更新日期:2010-10-01 00:00:00
abstract::In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiolo...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-010-9256-6
更新日期:2011-04-01 00:00:00
abstract::What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components of the phenome (transcriptome, metabolome, proteome, etc.). The phenome, its layers, and its n...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1023/B:BOLI.0000031100.26546.6e
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
pub_type: 杂志文章
doi:10.1007/s10545-015-9828-6
更新日期:2015-09-01 00:00:00
abstract::Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-013-9625-z
更新日期:2014-01-01 00:00:00
abstract::Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy. ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-005-0018-9
更新日期:2005-01-01 00:00:00
abstract::The very long chain fatty acids in cultured fibroblasts from six patients with the cerebro-hepato-renal syndrome of Zellweger, from six of their parents, from three controls, and also in three amniotic fluid control cell lines were analysed by gas chromatography. Increased concentrations of hexacosanoic acid (C26:O) w...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01805473
更新日期:1985-01-01 00:00:00
abstract::The ability of EB virus-transformed lymphoblasts with undetectable galactose-1-phosphate uridyltransferase (GALT) from 15 galactosaemic patients to oxidize [1-(14)C]galactose to 14CO2 was compared to that of cells from 7 normal subjects. The oxidation of galactose but not of glucose was markedly diminished by cells fr...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1010529629750
更新日期:2001-08-01 00:00:00
abstract::When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1002/jimd.12030
更新日期:2019-01-01 00:00:00
abstract::In most patients with deficiency of tetrahydrobiopterin (BH4) continuous administration of BH4 or of a synthetic analogue such as 6-methyltetrahydropterin (6-MPH4) lowers plasma phenylalanine concentrations to the therapeutic range. The effective dose of BH4 varies from 1 to 2 mg kg-1 daily in patients with defective ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01800658
更新日期:1985-01-01 00:00:00
abstract::Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, whil...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1005694320063
更新日期:2001-02-01 00:00:00
abstract::Neuropsychological assessment is essential in providing documentation of the untreated natural history of storage diseases associated with dementia and quantifying the effectiveness of treatment on central nervous system function. Baseline characterization and outcome of bone marrow transplantation (BMT) for three leu...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/BF00710053
更新日期:1995-01-01 00:00:00
abstract:AIM:This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS:24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, pl...
journal_title:Journal of inherited metabolic disease
pub_type: 临床试验,杂志文章
doi:10.1007/s10545-007-0621-z
更新日期:2007-10-01 00:00:00
abstract::The extent of hydroxylation of proline in collagen synthesized and secreted into the culture medium by skin fibroblasts derived from a patient with prolidase deficiency has been examined and found to be normal. It would seem likely that to a considerable extent the urinary proline-containing dipeptides apparent in thi...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01800003
更新日期:1982-01-01 00:00:00