3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

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 Dis

authors

Gibson KM,Breuer J,Kaiser K,Nyhan WL,McCoy EE,Ferreira P,Greene CL,Blitzer MG,Shapira E,Reverte F

doi

10.1007/BF01800058

subject

Has Abstract,Author List Incomplete

pub_date

1988-01-01 00:00:00

pages

76-87

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

11

pub_type

杂志文章
  • Second case of a successful pregnancy in maternal isovaleric acidaemia.

    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

    authors: Spinty S,Rogozinski H,Lealman GT,Wraith JE

    更新日期:2002-12-01 00:00:00

  • Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

    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

    authors: Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

    更新日期:2015-09-01 00:00:00

  • Pathogenic cascades in lysosomal disease-Why so complex?

    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

    authors: Walkley SU

    更新日期:2009-04-01 00:00:00

  • Maternal histidinaemia: pregnancies and offspring outcomes.

    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

    authors: Levy HL,Yu JJ,Waisbren SE

    更新日期:2004-01-01 00:00:00

  • Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

    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

    authors: Hirono H,Shoji Y,Takahashi T,Sato W,Takeda E,Nishijo T,Kuroda Y,Nishigaki T,Inui K,Takada G

    更新日期:1998-12-01 00:00:00

  • Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

    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

    authors: Jansen EE,Vogel KR,Salomons GS,Pearl PL,Roullet JB,Gibson KM

    更新日期:2016-11-01 00:00:00

  • Treatment with amino acids in serine deficiency disorders.

    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

    authors: de Koning TJ

    更新日期:2006-04-01 00:00:00

  • A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

    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

    authors: Dörre K,Olczak M,Wada Y,Sosicka P,Grüneberg M,Reunert J,Kurlemann G,Fiedler B,Biskup S,Hörtnagel K,Rust S,Marquardt T

    更新日期:2015-09-01 00:00:00

  • Allergic disease as an association of steroid sulphatase deficiency.

    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

    authors: Sakura N,Nishimura S,Matsumoto T,Ohsaki M,Ogata T

    更新日期:1997-11-01 00:00:00

  • A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

    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

    authors: Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

    更新日期:2008-12-01 00:00:00

  • The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls.

    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

    authors: Dean MF

    更新日期:1983-01-01 00:00:00

  • Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.

    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

    authors: Oaks Z,Jimah J,Grossman CC,Beckford M,Kelly R,Banerjee S,Niland B,Miklossy G,Kuloglu Z,Kansu A,Lee W,Szonyi L,Banki K,Perl A

    更新日期:2020-05-01 00:00:00

  • Galactose metabolism in transferase-deficient galactosaemic and normal long-term lymphoid cell lines.

    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

    authors: Beratis NG,Wilbur L

    更新日期:1987-01-01 00:00:00

  • Amino acids: analytical aspects.

    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

    authors: Mayne PD,Roche G,Deverell D

    更新日期:2001-04-01 00:00:00

  • Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

    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

    authors: Ghiasvand NM,Aledavood A,Ghiasvand R,Seyedin Borojeny F,Aledavood AR,Seyed S,Miner W,Saeb Taheri GR

    更新日期:2009-12-01 00:00:00

  • Inborn errors of purine metabolism: clinical update and therapies.

    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

    authors: Balasubramaniam S,Duley JA,Christodoulou J

    更新日期:2014-09-01 00:00:00

  • Cerebral metabolic change after treatment in biotinidase deficiency.

    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

    authors: Lott IT,Lottenberg S,Nyhan WL,Buchsbaum MJ

    更新日期:1993-01-01 00:00:00

  • Recent advances in newborn screening.

    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

    authors: Wilcken B

    更新日期:2007-04-01 00:00:00

  • A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.

    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

    authors: Igarashi Y,Otomo H,Narisawa K,Tada K

    更新日期:1980-01-01 00:00:00

  • 3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

    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

    authors: Law LK,Tang NL,Hui J,Lam CW,Fok TF

    更新日期:2003-01-01 00:00:00

  • Dolichol and phosphorylated dolichol content of tissues in ceroid-lipofuscinosis.

    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

    authors: Hall NA,Patrick AD

    更新日期:1985-01-01 00:00:00

  • Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.

    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

    authors: Chalmers RA

    更新日期:1984-01-01 00:00:00

  • Synaptic metabolism and brain circuitries in inborn errors of metabolism.

    abstract:: ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 社论

    doi:10.1007/s10545-018-00252-y

    authors: García-Cazorla À,Artuch R,Bayès À

    更新日期:2018-11-01 00:00:00

  • Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

    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

    authors: van Tol W,Michelakakis H,Georgiadou E,van den Bergh P,Moraitou M,Papadimas GK,Papadopoulos C,Huijben K,Alsady M,Willemsen MA,Lefeber DJ

    更新日期:2019-09-01 00:00:00

  • Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.

    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

    authors: Abi-Wardé MT,Roda C,Arnoux JB,Servais A,Habarou F,Brassier A,Pontoizeau C,Barbier V,Bayart M,Leboeuf V,Chadefaux-Vekemans B,Dubois S,Assoun M,Belloche C,Alili JM,Husson MC,Lesage F,Dupic L,Theuil B,Ottolenghi C,de

    更新日期:2017-11-01 00:00:00

  • International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

    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

    authors: Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

    更新日期:2021-01-01 00:00:00

  • Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.

    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

    authors: Niemann M,Hartmann T,Namdar M,Breunig F,Beer M,Machann W,Herrmann S,Ertl G,Wanner C,Weidemann F

    更新日期:2013-09-01 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

  • Regulatory environment for novel therapeutic development in mitochondrial diseases.

    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

    authors: Hirano M,Berardo A,Barca E,Emmanuele V,Quinzii C,Simpson CV,Engelstad K,Rosales XQ,Thompson JLP

    更新日期:2020-12-24 00:00:00

  • Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

    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

    authors: Ohura T,Abukawa D,Shiraishi H,Yamaguchi A,Arashima S,Hiyamuta S,Tada K,Iinuma K

    更新日期:1999-02-01 00:00:00