Abstract:
:Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Gibson KM,Breuer J,Kaiser K,Nyhan WL,McCoy EE,Ferreira P,Greene CL,Blitzer MG,Shapira E,Reverte Fdoi
10.1007/BF01800058subject
Has Abstract,Author List Incompletepub_date
1988-01-01 00:00:00pages
76-87issue
1eissn
0141-8955issn
1573-2665journal_volume
11pub_type
杂志文章abstract::A female patient with isovaleric acidaemia had a successful outcome from pregnancy. ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1022837416232
更新日期:2002-12-01 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
pub_type: 杂志文章
doi:10.1007/s10545-014-9803-7
更新日期:2015-09-01 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::Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727+/-186 micromol/L (range 484-1,053). Six women had classic histidinaemia (assigned level >700 micromol/L) and the remaining four had mild (atypical) histidina...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/B:BOLI.0000028783.35805.dd
更新日期:2004-01-01 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::We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both met...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-016-9980-7
更新日期:2016-11-01 00:00:00
abstract::Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-006-0269-0
更新日期:2006-04-01 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::Ten of 31 patients with steroid sulphatase (STS) deficiency were found to have an allergic disease (bronchial asthma, allergic rhinitis, or atopic dermatitis). STS deficiency may predispose patients to allergic disease. ...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1005375902993
更新日期:1997-11-01 00:00:00
abstract::Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-008-1049-9
更新日期:2008-12-01 00:00:00
abstract::The substrate O-(alpha-L-idopyranosyluronic acid-2-sulphate)-(1 leads to 4)-2,5-anhydro-D-(3H-1) mannitol-6-sulphate was used at a final concentration of 50 mmol/l to measure the alpha-L-idurono-2-sulphate sulphatase activities of cell extracts, serum and amniotic fluid. Activities were measured after dialysis against...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01800738
更新日期:1983-01-01 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::The activity (mean +/- SD) of galactose-1-phosphate uridyl transferase in two long-term lymphoid cell lines from Caucasian patients with transferase deficiency galactosaemia, a heterozygote, and eight normal subjects was 0, 78 and 168 +/- 55 nmol UDPG consumed (mg protein)-1h-1, respectively. Also, no activity was fou...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01799977
更新日期:1987-01-01 00:00:00
abstract::This workshop was organized as a direct response to concerns and queries raised by laboratory personnel, both in Europe and in the United States, about the imminent withdrawal of Beckman Coulter from the amino acid analysis market. The topics covered included external quality control schemes, standard operating proced...
journal_title:Journal of inherited metabolic disease
pub_type:
doi:10.1023/a:1010343707174
更新日期:2001-04-01 00:00:00
abstract::Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries pr...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-009-1222-9
更新日期:2009-12-01 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
pub_type:
doi:10.1007/s10545-014-9731-6
更新日期:2014-09-01 00:00:00
abstract::A 13.5-year-old boy with biotinidase deficiency was studied 8 days before and 5 months after biotin treatment by positron emission tomography (PET) and computerized electroencephalographic topography (CET). With biotin treatment there was a marked improvement in the presenting symptom of loss of visual acuity and a mo...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF00710288
更新日期:1993-01-01 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::A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01801717
更新日期:1980-01-01 00:00:00
abstract::We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretio...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/b:boli.0000005603.04633.21
更新日期:2003-01-01 00:00:00
abstract::Concentrations of free dolichol, total non-phosphorylated dolichol, and total phosphorylated dolichol were measured in autopsy specimens of brain and liver from ceroid-lipofuscinosis (CL) and control cases. Levels of non-phosphorylated dolichol, mainly as free dolichol, were increased approximately two-fold in late-in...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01805431
更新日期:1985-01-01 00:00:00
abstract::The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF03047380
更新日期:1984-01-01 00:00:00
abstract:: ...
journal_title:Journal of inherited metabolic disease
pub_type: 社论
doi:10.1007/s10545-018-00252-y
更新日期:2018-11-01 00:00:00
abstract::The congenital disorders of glycosylation (CDG) are inborn errors of metabolism with a great genetic heterogeneity. Most CDG are caused by defects in the N-glycan biosynthesis, leading to multisystem phenotypes. However, the occurrence of tissue-restricted clinical symptoms in the various defects in dolichol-phosphate...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1002/jimd.12095
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a co...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-017-0083-x
更新日期:2017-11-01 00:00:00
abstract::Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1002/jimd.12286
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Morphology and function of Fabry cardiomyopathy has been previously studied by echocardiography and cardiac magnetic resonance (CMR). However, the value of electrocardiography (ECG) in relation to these two techniques remains largely unknown. METHODS:One hundred fifty genetically confirmed Fabry patients we...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-012-9540-8
更新日期:2013-09-01 00:00:00
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
更新日期:2021-01-01 00:00:00
abstract::At present, there is just one approved therapy for patients with mitochondrial diseases in Europe, another in Japan, and none in the United States. These facts reveal an important and significant unmet need for approved therapies for these debilitating and often fatal disorders. To fill this need, it is critical for c...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1002/jimd.12353
更新日期:2020-12-24 00:00:00
abstract::Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were se...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1005455401076
更新日期:1999-02-01 00:00:00