Abstract：
:Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more obvious. One is the finding of many more cases by screening, the extra cases being largely patients who have attenuated phenotypes and may remain asymptomatic for many years, even throughout life. These may or may not require active management in the short term, but do need lifelong awareness. Additionally, disorders have been included that are now thought benign or largely so. Babies risk being unnecessarily medicalized. Assessing outcome has also proved difficult because of the rarity of some disorders and the impracticality of randomized controlled trials. The requirements for valid studies include the need for case definitions, comparable comparison groups and probably assessment on a whole-population basis. An Australia-wide study of tandem mass spectrometry newborn screening involving 2 million screened and unscreened babies has demonstrated benefits overall to screened patients at age 6 years. The study was too small to provide conclusions for individual disorders other than for medium-chain acyl-CoA dehydrogenase deficiency.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Wilcken Bdoi
10.1007/s10545-010-9106-6subject
Has Abstractpub_date
2010-10-01 00:00:00pages
S205-10issue
Suppl 2eissn
0141-8955issn
1573-2665journal_volume
33pub_type
杂志文章abstract：:Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-018-0180-5
更新日期：2018-11-01 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：:Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadeca...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01805686
更新日期：1978-01-01 00:00:00
abstract：:In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine-restricted diet can prevent severe intellectual impairment. Nevertheless, outcome remains suboptimal in some patients asking for additional treatment strategies. Tetrahydrobiopterin (BH4 ) could be one...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1002/jimd.12151
更新日期：2020-03-01 00:00:00
abstract：:We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1005422819207
更新日期：1998-12-01 00:00:00
abstract：OBJECTIVE:To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. METHODS:This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between Sept...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-012-9474-1
更新日期：2012-11-01 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：:To date, inborn errors of neurotransmitters have been defined based on the classic concept of inborn error of metabolism (IEM), and they include defects in synthesis, catabolism, and transport pathways. However, the omics era is bringing insights into new diseases and is leading to an extended definition of IEM includ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-018-0235-7
更新日期：2018-11-01 00:00:00
abstract：:Plasma total homocysteine (tHcy) determination is used in the diagnosis of homocystinuria, in cobalamin and folate deficiency and in cardiovascular risk assessment. However, determination of tHcy includes many pitfalls which complicate the assessment of homocysteine status. In the present article, we review basic know...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1023/a:1005321225893
更新日期：1997-06-01 00:00:00
abstract：:Recent studies have identified a role for supraphysiological gamma-aminobutyric acid (GABA) in the regulation of mechanistic target of rapamycin (mTOR), a protein kinase with pleiotropic roles in cellular development and homeostasis, including integration of growth factors and nutrient sensing and synaptic input in ne...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-016-9959-4
更新日期：2016-11-01 00:00:00
abstract：:Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such as transketolase (TKT), are incompatible with mammalian cell survival, mice lacking TAL are viable and develop progressive liver disease attr...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1002/jimd.12197
更新日期：2020-05-01 00:00:00
abstract：:Niemann-Pick disease type C2 (NPC2) is caused by the inherited deficiency of a lysosomal cholesterol transport protein, NPC2 protein. Many cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. This disease is theoretically corre...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-010-9060-3
更新日期：2010-12-01 00:00:00
abstract：:Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1002/jimd.12025
更新日期：2019-01-01 00:00:00
abstract：:We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were h...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01801662
更新日期：1985-01-01 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
pub_type： 杂志文章
doi：10.1007/s10545-005-0150-6
更新日期：2005-01-01 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
pub_type： 杂志文章
doi：10.1007/s10545-008-0868-z
更新日期：2008-12-01 00:00:00
abstract：:Lesch-Nyhan disease (LND) is caused by complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase enzyme. It is characterized by overproduction of uric acid, jointly with severe motor disability and self-injurious behaviour which physiopathology is unknown. These neurological manifestations suggest a dy...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-012-9470-5
更新日期：2012-11-01 00:00:00
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
更新日期：2021-01-01 00:00:00
abstract：:Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined im...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-013-9664-5
更新日期：2014-05-01 00:00:00
abstract：:Plasma and erythrocyte fatty acids have been measured in 9 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency being treated with a low-fat diet. No significant abnormality was detected and in particular docosahexaenoic acid was not deficient. ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1025175606891
更新日期：2003-01-01 00:00:00
abstract：:The introduction of tandem mass spectrometry has unquestionably been the most striking recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders, making it possible to screen for some disorders that might otherwise have seemed too rare. Current screening is f...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-007-0538-6
更新日期：2007-04-01 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：:Twenty-four pregnancies at risk for Hurler disease (MPS I) were monitored by measurement of alpha-iduronidase in chorionic villi. Adequate samples were obtained for direct assay of the villi in 22 pregnancies. Five were found to be affected and the pregnancies were terminated. In another pregnancy an equivocal result ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01799636
更新日期：1992-01-01 00:00:00
abstract：:Defects of the mitochondrial oxidative phosphorylation (OXPHOS) system are frequent causes of neurological disorders in children. Linkage analysis and DNA sequencing identified a new founder p.G250V substitution in the C20ORF7 complex I chaperone in five Ashkenazi Jewish patients from two families with a combined OXPH...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-011-9348-y
更新日期：2012-01-01 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：:Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review. ...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01800058
更新日期：1988-01-01 00:00:00
abstract：:Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs b...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1023/a:1005390105171
更新日期：1998-06-01 00:00:00
abstract：:The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and cerebr...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1015137917508
更新日期：2002-02-01 00:00:00
abstract：:Lysosomal disease represents a large group of more than 50 clinically recognized conditions resulting from inborn errors of metabolism affecting the organelle known as the lysosome. The lysosome is an integral part of the larger endosomal/lysosomal system, and is closely allied with the ubiquitin-proteosomal and autop...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-008-1040-5
更新日期：2009-04-01 00:00:00
abstract：:We report D-2-hydroxyglutaric aciduria in a neonate with intracranial haemorrhage and absence of the corpus callosum. D-2-hydroxyglutaric acid was confirmed by specific chiral derivatization gas chromatography-mass spectrometry. Absence of the corpus callosum and spontaneous neonatal intracranial haemorrhage should ra...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1024000202364
更新日期：2003-01-01 00:00:00
