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 leukodystrophy and in Krabbe disease, or from synthesis of an abnormal proteolipid protein in Pelizaeus-Merzbacher disease. The cause of white matter involvement in other leukodystrophies remains unknown even though metabolic anomalies, such as accumulation of acetylaspartic acid in Canavan disease, have been demonstrated. Common clinical features of the leukodystrophies include neurological deterioration following a period of normal development, predominant involvement of motor function at least initially, and absence of convulsions or myoclonus. Imaging-especially magnetic resonance-shows changes in density or signal from central white matter. Most leukodystrophies feature suggestive symptoms and signs such as effects on peripheral nerves' myelin in Krabbe disease and metachromatic leukodystrophy, or X-linked inheritance and slow deterioration in Pelizaeus-Merzbacher disease. Therapy of the leukodystrophies is purely symptomatic in most cases. Trials of bone marrow transplantation are being pursued for metachromatic leukodystrophy and adrenoleukodystrophy.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Aicardi Jdoi
10.1007/BF00711905subject
Has Abstractpub_date
1993-01-01 00:00:00pages
733-43issue
4eissn
0141-8955issn
1573-2665journal_volume
16pub_type
杂志文章,评审abstract：BACKGROUND:Internet searches on health topics are common, but not enough is known about online use during serious health concerns. The aim of this study was to investigate parents' internet use and responses to online information following the referral of their newborn screen-positive infants. METHODS:Forty-four paren...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-011-9449-7
更新日期：2012-09-01 00:00:00
abstract：:Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1005513626542
更新日期：1999-06-01 00:00:00
abstract：:A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates f...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-011-9308-6
更新日期：2011-06-01 00:00:00
abstract：:The intestinal microvillar enzyme complex sucrase-isomaltase has been studied in cystic fibrosis and control ileum. A number of biochemical parameters of the enzyme in ileum homogenates have been determined. Both solubilized as well as membrane-bound sucrase-isomaltase were analyzed with respect to their reaction with...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01805427
更新日期：1985-01-01 00:00:00
abstract：:After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. ...
journal_title：Journal of inherited metabolic disease
pub_type： 共识发展会议,杂志文章,评审
doi：10.1023/b:boli.0000031221.44647.9e
更新日期：2004-01-01 00:00:00
abstract：:2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) is an experimental therapy for Niemann-Pick disease type C (NPC) that reduced neuronal cholesterol and ganglioside storage, reduced Purkinje cell death, and increased lifespan in npc1-/- mice and NPC1 cats. In this study, tissue distribution was investigated in normal cats that...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1002/jimd.12189
更新日期：2020-05-01 00:00:00
abstract：:The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summari...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-010-9079-5
更新日期：2010-08-01 00:00:00
abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-007-0563-5
更新日期：2007-04-01 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：:Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in vascular smooth-muscle and endothelial cells. The effect of this accumulation on peripheral and cardiac vascular function is poorly...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-005-0563-2
更新日期：2005-01-01 00:00:00
abstract：:The pathogenesis of brain dysfunction in phenylketonuria (PKU) is still under investigation. Hyperphenylalaninaemia results in increased turnover of myelin. In order to demonstrate the derangement of myelinization in PKU we studied the visual evoked potentials (VEP) in 14 PKU patients and in 20 normal subjects. VEP fi...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01800430
更新日期：1988-01-01 00:00:00
abstract：:An infant with glycogen storage disease and prolonged malnourishment showed a urinary organic acid profile during an episode of fasting hypoglycaemia with inappropriate hypoketotic dicarboxylic aciduria that was indistinguishable from that reported in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. Although t...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF00714277
更新日期：1993-01-01 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
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
更新日期：2010-10-01 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
pub_type： 杂志文章
doi：10.1007/s10545-010-9228-x
更新日期：2010-12-01 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
pub_type： 杂志文章
doi：10.1007/BF01799171
更新日期：1996-01-01 00:00:00
abstract：:An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01804389
更新日期：1991-01-01 00:00:00
abstract：:Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, ge...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01799628
更新日期：1992-01-01 00:00:00
abstract：:Patients with MPS II often present with limitations to functional mobility. With the advent of enzyme replacement therapy (ERT), robust assessment tools are important to assess response to treatment. The aim of this study was to see if the GAITRite™ system (electronic pressure sensitive walkway) could identify any cha...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-009-1103-2
更新日期：2009-12-01 00:00:00
abstract：:Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-011-9340-6
更新日期：2011-12-01 00:00:00
abstract：:DNA sequence analyses have become a major component in the diagnostic work-up of patients; however, limited consideration appears to be given to the possibility that reported results may in fact be wrong. Over the last four years we have carried out an External Quality Assessment scheme for mutation analysis in phenyl...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-008-1052-1
更新日期：2008-12-01 00:00:00
abstract：:Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garro...
journal_title：Journal of inherited metabolic disease
pub_type： 传,历史文章,杂志文章,评审
doi：10.1007/s10545-008-0984-9
更新日期：2008-10-01 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
pub_type： 杂志文章
doi：10.1007/s10545-009-0926-1
更新日期：2009-12-01 00:00:00
abstract：:Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01799284
更新日期：1989-01-01 00:00:00
abstract：:There are two mechanisms for glucose transport across cell membranes. In the intestine and renal proximal tubule, glucose is transported against a concentration gradient by a secondary active transport mechanism in which glucose is cotransported with sodium ions. In all other cells, glucose transport is mediated by on...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1023/a:1005632012591
更新日期：2000-05-01 00:00:00
abstract：:Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-...
journal_title：Journal of inherited metabolic disease
pub_type： 临床试验,杂志文章
doi：10.1023/a:1005608113270
更新日期：2000-07-01 00:00:00
abstract：:There is now strong evidence for the implication of collagen alpha 1(I), alpha 2(I) and alpha 1(III) mutations in many forms of osteogenesis imperfecta and inherited arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemi...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/BF01799292
更新日期：1989-01-01 00:00:00
abstract：:Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including s...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-018-0136-9
更新日期：2018-03-01 00:00:00
abstract：BACKGROUND:Methylmalonic acidemia and intracellular cobalamin metabolism disorders represent a heterogeneous group of inborn errors of metabolism. Most patients will require diagnostic and/or therapeutic procedures frequently requiring sedation or anesthetic management due to neurological and neurocognitive impairments...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-015-9816-x
更新日期：2015-09-01 00:00:00
abstract：:There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target diso...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-014-9727-2
更新日期：2014-11-01 00:00:00
