Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

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 OXPHOS complex I and IV defect presenting with Leigh's syndrome in infancy. Complementation with the wild type gene restored complex I, but only partially complex IV activity. Although the pathogenic mechanism remains elusive, a C20ORF7 defect should be considered not only in isolated complex I deficiency, but also in combination with decreased complex IV. Given the significant 1:290 carrier rate for the p.G250V mutation among Ashkenazi Jews, this mutation should be screened in all Ashkenazi patients with Leigh's syndrome prior to muscle biopsy.

journal_name

J Inherit Metab Dis

authors

Saada A,Edvardson S,Shaag A,Chung WK,Segel R,Miller C,Jalas C,Elpeleg O

doi

10.1007/s10545-011-9348-y

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

125-31

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

35

pub_type

杂志文章
  • New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.

    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

    authors: Francová H,Trbusek M,Zapletalová P,Kuhrová V

    更新日期:2004-01-01 00:00:00

  • Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

    abstract::Riboflavin and ubiquinone (Coenzyme Q(10), CoQ(10)) deficiencies are heterogeneous groups of autosomal recessive conditions affecting both children and adults. Riboflavin (vitamin B(2))-derived cofactors are essential for the function of numerous dehydrogenases. Genetic defects of the riboflavin transport have been de...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/s10545-011-9434-1

    authors: Horvath R

    更新日期:2012-07-01 00:00:00

  • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

    abstract::In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-012-9483-0

    authors: Loeber JG,Burgard P,Cornel MC,Rigter T,Weinreich SS,Rupp K,Hoffmann GF,Vittozzi L

    更新日期:2012-07-01 00:00:00

  • A Brazilian galactosialidosis patient given renal transplantation: a case report.

    abstract::We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts an...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-008-0730-3

    authors: Kiss A,Zen PR,Bittencourt V,Paskulin GA,Giugliani R,d'Azzo A,Schwartz IV

    更新日期:2008-12-01 00:00:00

  • Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.

    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

    authors: Sinici I,Tropak MB,Mahuran DJ,Ozkara HA

    更新日期:2004-01-01 00:00:00

  • Symptoms and signs in organic acidurias.

    abstract::Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reac...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF03047369

    authors: Brandt NJ

    更新日期:1984-01-01 00:00:00

  • Free use of fruits and vegetables in phenylketonuria.

    abstract::This study aimed to evaluate systematically the effect of the free use of fruits and vegetables containing an intermediate amount of phenylalanine (51-100 mg/100 g) on the biochemical control in children with phenylketonuria (PKU). Fifteen subjects with PKU, with a median age of 6 years (range 1-24 years) were studied...

    journal_title:Journal of inherited metabolic disease

    pub_type: 临床试验,杂志文章

    doi:10.1023/a:1025150901439

    authors: MacDonald A,Rylance G,Davies P,Asplin D,Hall SK,Booth IW

    更新日期:2003-01-01 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

  • Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha.

    abstract::Fabry disease is an X-linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α-galactosidase A. Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes is an effective treatment. Cross-reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta has b...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-010-9136-0

    authors: Tanaka A,Takeda T,Hoshina T,Fukai K,Yamano T

    更新日期:2010-12-01 00:00:00

  • The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.

    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

    authors: Besley GT

    更新日期:1978-01-01 00:00:00

  • Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe.

    abstract::Using a human dihydropteridine reductase (DHPR) cDNA, the frequency of restriction fragment length polymorphisms (RFLPs) with restriction endonucleases AvaII, MspI, NcoI and HinfI was estimated in unrelated, unaffected Japanese. The allele frequencies are different from those found in Caucasians, especially with MspI ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01800212

    authors: Hayasaka K,Narisawa K,Ohura T,Ogawa E,Dahl HH

    更新日期:1990-01-01 00:00:00

  • Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

    abstract::High lactate concentrations occur in type I glycogen storage disease (GSD) whenever glycogenolysis occurs. Not only does hyperlactataemia cause acute clinical deterioration, but chronic lactate elevations have also been associated with many of the long-term complications in GSD. A portable finger-stick blood lactate m...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-005-0090-1

    authors: Saunders AC,Feldman HA,Correia CE,Weinstein DA

    更新日期:2005-01-01 00:00:00

  • Review: the immunochemical analysis of enzyme from mucopolysaccharidoses patients.

    abstract::The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/BF00711309

    authors: Brooks DA

    更新日期:1993-01-01 00:00:00

  • Expanded newborn screening: reducing harm, assessing benefit.

    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 ob...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-010-9106-6

    authors: Wilcken B

    更新日期:2010-10-01 00:00:00

  • The X chromosome in development in mouse and man.

    abstract::In mammals, dosage compensation for X-linked genes between males and females is achieved by the inactivation of one of the X chromosomes in females. The inactivation event occurs early in development in all cells of the female mouse embryo and is stable and heritable in somatic cells. However, in the primordial germ c...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/BF01799608

    authors: Monk M

    更新日期:1992-01-01 00:00:00

  • Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.

    abstract::Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01799839

    authors: Parnet JM,Divry P,Vianey-Saban C,Mathieu M

    更新日期:1996-01-01 00:00:00

  • Familial combined hyperlipidaemia: use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver.

    abstract::We have assessed very low-density lipoprotein apolipoprotein B production, using [15N]glycine as an endogenous marker in a 9-hour primed constant infusion protocol, in four adult male subjects with familial combined hyperlipidaemia and in four normolipidaemic adult male controls. The mean very low-density lipoprotein ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01800473

    authors: Cortner JA,Coates PM,Bennett MJ,Cryer DR,Le NA

    更新日期:1991-01-01 00:00:00

  • Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.

    abstract:: ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 评论,信件

    doi:10.1007/s10545-018-0248-2

    authors: Brooks ED,Kishnani PS,Koeberl DD

    更新日期:2018-11-01 00:00:00

  • The treatment of congenital lactic acidoses.

    abstract::Congenital lactic acidoses form a heterogeneous group of disorders: this paper considers primarily defects of the pyruvate dehydrogenase complex and the respiratory chain. Attempts to treat these disorders are hampered by uncertainty concerning the pathophysiology and by the central role of the enzymes in cellular met...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/BF01799117

    authors: Morris AA,Leonard JV

    更新日期:1996-01-01 00:00:00

  • Clinical aspects of neuropathic lysosomal storage disorders.

    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

    authors: Jardim LB,Villanueva MM,de Souza CF,Netto CB

    更新日期:2010-08-01 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

  • Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

    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

    authors: Giraldo P,Capablo JL,Alfonso P,Garcia-Rodriguez B,Latre P,Irun P,de Cabezon AS,Pocovi M

    更新日期:2011-06-01 00:00:00

  • Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

    abstract::This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-005-4497-5

    authors: Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

    更新日期:2005-01-01 00:00:00

  • Inborn errors of metabolism in Latin America: challenges and opportunities.

    abstract::Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Chall...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-010-9112-8

    authors: Giugliani R

    更新日期:2010-10-01 00:00:00

  • Type I hereditary tyrosinaemia: presentation of 11 cases.

    abstract::Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01799947

    authors: Coşkun T,Ozalp I,Koçak N,Yüce A,Caglar M,Berger R

    更新日期:1991-01-01 00:00:00

  • Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.

    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

    authors: Montioli R,Cellini B,Borri Voltattorni C

    更新日期:2011-12-01 00:00:00

  • Multiple sulphatase deficiency in homozygotic twins.

    abstract::Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scal...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01805620

    authors: Nevsímalová S,Elleder M,Smíd F,Zemánková M

    更新日期:1984-01-01 00:00:00

  • International Paediatric Mitochondrial Disease Scale.

    abstract:OBJECTIVE:There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) durin...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s10545-016-9948-7

    authors: Koene S,Hendriks JCM,Dirks I,de Boer L,de Vries MC,Janssen MCH,Smuts I,Fung CW,Wong VCN,de Coo IRFM,Vill K,Stendel C,Klopstock T,Falk MJ,McCormick EM,McFarland R,de Groot IJM,Smeitink JAM

    更新日期:2016-09-01 00:00:00

  • Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups alpha and beta stimulates LDL-derived cholesterol esterification.

    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

    authors: Steinberg SJ,Mondal D,Fensom AH

    更新日期:1996-01-01 00:00:00

  • Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

    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

    authors: Wendt S,Whybra C,Kampmann C,Teichmann E,Beck M

    更新日期:2005-01-01 00:00:00