Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.

Abstract:

:Myoadenylate deaminase deficit (MAD, MIM#615511) is the most common cause of metabolic myopathies with an estimated prevalence of 1-2% in the general population. We report the case of a 39-year-old man suffering from severe skeletal muscle pain that had developed gradually for 4 years. A moderate increase in creatine kinase (CK) was the only biological sign observed. This study takes a closer look at a common but poorly known pathology and highlights the interest of the dynamic metabolic investigations carried out during exercise stress test with a cycle ergometer. Our non-invasive clinical and biological examination, at the interface between physiology and biology, disclosed the total absence of a physiological increase in plasma ammonia evocative of MAD. However, MAD was later confirmed by histochemistry and molecular studies, which revealed the presence of the recurrent homozygous pathogenic variant affecting the adenosine monophosphate deaminase 1 gene (AMPD1) in most patients with MAD.

journal_name

Ann Biol Clin (Paris)

authors

Lim L,Palayer M,Bruneau A,Letournel F,Le Maréchal C,Simard G,Reynier P,Homedan C,Nadaj-Pakleza A

doi

10.1684/abc.2017.1253

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

445-449

issue

4

eissn

0003-3898

issn

1950-6112

pii

abc.2017.1253

journal_volume

75

pub_type

杂志文章
  • [Enzymatic activity assays in the hepatic cell by mass fragmentography associated with gas-liquid chromatography].

    abstract::The most generalized methods in enzymology are based on the quantitative assay of compounds, substrate or coenzyme, by spectrophotometry without any separation. Such a method is ruled out if the colorimetric reaction is not specific of the compound. In liver enzymology, aside the classical metabolic pathways, such ass...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Padieu P,Maume BF

    更新日期:1976-01-01 00:00:00

  • [HLA, A, B, C, DR, C4, Bf in insulin-dependent diabetics in the Tunisian population].

    abstract::There is no doubt that the autoimmune process in human disease depends on genetic factors. Varying associations were noticed between HLA DR and autoimmune disorders. The frequency of HLA-A-B and DR antigens as well as the Bf and C4 allotypes have been investigated in insulinodependant diabetes mellitus (IDDM) and comp...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Jenhani F,Bardi R,Gorgi Y,Ayed K,Chammaki S,Boukhris R

    更新日期:1989-01-01 00:00:00

  • Unexpected migration of free light chains in urinary protein electrophoresis.

    abstract::Urinary protein electrophoresis analysis (UPE) is an essential investigation for the study of abnormal proteins in urines. The interpretation of this analysis must be comprehensive and relevant. Indeed, UPE is often requested by clinicians and may have an important impact in patient's management. This paper presents t...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2016.1200

    authors: Nel I,Thiolières JM,Ghillani-Dalbin P,Jacquiaud C,Piéroni L

    更新日期:2017-02-01 00:00:00

  • [A liquid chromatography technique for routine determination of urinary estriol in human pregnancy (author's transl)].

    abstract::A liquid chromatography procedure for routine determination of urinary estriol concentrations is described. After enzymic hydrolysis of a 1 ml sample, automatic extraction with chloroform/ethyl acetate, purification by chromatography on a disposable "minicolumn" of AG 1-X2, urinary estrogens are separated with normal ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Habrioux G

    更新日期:1981-01-01 00:00:00

  • [Circulating citrulline levels: a biomarker for intestinal functionality assessment].

    abstract::Circulating citrulline is emerging as an innovating biomarker candidate for assessment of intestinal function. Amino acid synthesized by enterocytes of intestinal mucosal, citrulline is not included in proteins or nutrition products and is a precursor for production of arginine by the kidney. Plasma citrulline is, in ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:10.1684/abc.2011.0609

    authors: Crenn P,Hanachi M,Neveux N,Cynober L

    更新日期:2011-09-01 00:00:00

  • [Multicenter evaluation of four homogenous LDL-cholesterol assays].

    abstract::International guidelines emphasize the importance of LDL cholesterol (LDL-C) assay in the care and follow-up of patients with cardiovascular risk. Most studies and common practice use Friedewald's formula for LDL-C calculation. The accuracy of the result depends closely on the precision of the input parameters (total ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Bayer P,Veinberg F,Couderc R,Cherfils C,Cambillau M,Cosson C,Fradin S,Gillery P,Steinmetz J,Legrand A,Egloff M,Beucler I

    更新日期:2005-01-01 00:00:00

  • [Digoxin assay: results of 10 years of intralaboratory controls].

    abstract::Serum digoxin measurement is often performed in medical laboratories. A professional association specialized in quality control, based in Lyon, has been organizing punctual controls of medication measurement for the past ten years. The results are analysed in term of intra and inter-technique precision, difference bet...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Mandy M,Manchon M,Meley R,Eynard JC,Grafmeyer D

    更新日期:2005-05-01 00:00:00

  • [Determination of phenobarbital, mephenytoin and diphenylhydantoin in the surveillance of anticonvulsant treatment].

    abstract::The authors describe a method of simultaneous estimation of phenobarbitone, mephenytoin and diphenylhydantoin in the blood. After extraction with ether, the methylation of these substances by trimethylanilinium hydroxide permits their rapid separation by gas chromatography. Heptabarbitone is used as internal standard ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Maitrot B,Hue G,Canonne MA,Rocher A,Landriau N

    更新日期:1976-01-01 00:00:00

  • [Current methods of immunologic diagnosis in parasitology].

    abstract::This review of the immunological diagnosis of parasitic diseases defines the various indications, the means of collection and preparation, the various levels of specificity and the choice of parasitic antigen which should be used for immuno-diagnosis. The detection and assay of circulating antibodies relies on the tec...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Carlier Y,Wery M

    更新日期:1983-01-01 00:00:00

  • [DIC and peripheral gangrene in a severe Plasmodium falciparum malaria: the coagulation-inflammation cycle with Plasmodium falciparum as a model].

    abstract::Peripheral gangrene with disseminated intravascular coagulation (DIC) during severe Plasmodium falciparum malaria has already been described but is unfrequent. We report here the case of a 62-year-old man admitted in the intensive care unit of our hospital for severe Plasmodium falciparum malaria with disseminated int...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2009.0367

    authors: Tessier-Marteau A,Cruguel Sl,Grand F,Asfar P,Zandecki M,Macchi L

    更新日期:2009-09-01 00:00:00

  • [The diagnosis of a group of Streptococci. 1 - Comparative study of various techniques for the extraction of the polyoside antigen from Streptococci].

    abstract::The present importance of streptococcal pathology implicates the identification of the streptococcal groups. The authors have carried out a comparative study of the various methods of extraction of the group specific antigen. They demonstrated the advantages and disadvantages of each method and consider the pronase ex...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Bergogne-Berezin E,Slim A

    更新日期:1976-01-01 00:00:00

  • [Hemostasis and human immunodeficiency virus (HIV) infection].

    abstract::Various coagulation abnormalities were reported in HIV-infected patients. Cases of severe thrombocytopenia were first observed in contaminated homosexual males, as well as prolonged APTT due to the presence of lupus-like anticoagulant with a frequency in the range 8 to 70% of the studied patients. Even if lupus antico...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Toulon P

    更新日期:1998-03-01 00:00:00

  • [Hormone determination in the management and monitoring of cycles of medically-assisted reproductive technology: value and difficulties of use].

    abstract::In assisted reproductive technology (ART), serum levels of several key hormones are used to evaluate ovarian follicular reserve and to monitor gonadotropin-stimulated follicle growth. Currently, serum estradiol, FSH, LH and inhibin B levels are examined and combined at the beginning of the menstrual cycle to evaluate ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Taieb J,Benattar C,Poüs C

    更新日期:2003-09-01 00:00:00

  • Thyroglobulin assay in fluids from lymph node fine needle-aspiration washout: influence of pre-analytical conditions.

    abstract::The aim of this study was to evaluate the pre-analytical factors contributing to uncertainty in thyroglobulin measurement in fluids from fine-needle aspiration (FNA) washout of cervical lymph nodes. We studied pre-analytical stability, in different conditions, of 41 samples prepared with concentrated solutions of thyr...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2017.1225

    authors: Casson FB,Moal V,Gauchez AS,Moineau MP,Sault C,Schlageter MH,Massart C

    更新日期:2017-04-01 00:00:00

  • [Method validation according to ISO 15189 and SH GTA 04: application for the extraction of DNA and its quantitative evaluation by a spectrophotometric assay].

    abstract::According to the French legislation on medical biology (January 16th, 2010), all biological laboratories must be accredited according to ISO 15189 for at least 50% of their activities before the end of 2016. The extraction of DNA from a sample of interest, whether solid or liquid is one of the critical steps in molecu...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0891

    authors: Harlé A,Lion M,Husson M,Dubois C,Merlin JL

    更新日期:2013-09-01 00:00:00

  • [Measurement of salivary cortisol with four commercial kits].

    abstract::Salivary cortisol was determined with four commercially available immunoassays: one enzyme-immunoassay (Cortisol Biotrol), two fluoro-immunoassays (TDX, Abbott; Stratus, Baxter) and one radioimmunoassay (Coat-A-Count, Behring). In order to improve the sensitivity of these immunoassays, it was necessary to increase sam...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Nahoul K,Patricot MC,Bressot N,Penes MC,Revol A

    更新日期:1996-01-01 00:00:00

  • A support to biological validation of oxygenation parameters.

    abstract::Blood gas analyzers are able to provide information on a wide range of oxygenation parameters. Some of these data are complex. Their biological significance or clinical consistency are not always well known. This article aims to define these parameters, their reference values according to the type of sample; and to ou...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:10.1684/abc.2017.1274

    authors: Godignon M,Costes F,Sapin V,Bouvier D

    更新日期:2017-12-01 00:00:00

  • Is a pre-analytical process for urinalysis required?

    abstract::For the reliable urinary measurement of calcium, phosphate and uric acid, a pre-analytical process by adding acid or base to urine samples at laboratory is recommended in order to dissolve precipitated solutes. Several studies on different kind of samples and analysers have previously shown that a such pre-analytical ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2017.1271

    authors: Petit M,Beaudeux JL,Majoux S,Hennequin C

    更新日期:2017-10-01 00:00:00

  • [Cytochrom P-450. Its value in toxicology. I. Physicochemical and biochemical properties].

    abstract::We present the distribution of cytochrome P450, the terminal oxidase of the microsomal drug-metabolizing system among the different species, organs, and its subcellular localization. Physicochemical properties, and more specially spectral properties, of this hemoprotein are reviewed. We also described the two microsom...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Boudene C,Boisset M

    更新日期:1975-01-01 00:00:00

  • [Creatine kinase BB sera in neonatal injury children (author's transl)].

    abstract::The purpose of this study is to find, besides the determination of lactate in blood, a suitable and specific indicator of brain damage in newborn. Accordingly, we studied the total creatine kinase (CK) activity, by the method of Rosalki, and its subunit isoenzymes BB (CK BB) by fluorescence following electrophoresis o...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Chopin N,Lavaud J,Voyer M,Bally M,Cloup M

    更新日期:1980-01-01 00:00:00

  • [Acute arsenic poisoning].

    abstract::Acute arsenic poisoning is a rare cause of suicide attempt. It causes a multiple organs failure caused by cardiogenic shock. We report the case of a patient admitted twelve hours after an ingestion of trioxide arsenic having survived thanks to a premature treatment. ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2014.1012

    authors: Montelescaut E,Vermeersch V,Commandeur D,Huynh S,Danguy des Deserts M,Sapin J,Ould-Ahmed M,Drouillard I

    更新日期:2014-11-01 00:00:00

  • [Incretins-adipocytokines interactions in type 2 diabetic subjects with or without non-alcoholic fatty liver disease: interest of GLP-1 (glucagon-like peptide-1) as a modulating biomarker].

    abstract::Type 2 diabetes (T2DM) associated with non-alcoholic fatty liver disease (NAFLD) increases cardiovascular risk. Complex and subtle connections are established between hepatic dysfunction and adipose tissue hyperactivity. This relationship is mediated by insulin resistance, dyslipidemia and inflammation. Recently incre...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2019.1436

    authors: Chellali S,Boudiba A,Griene L,Koceir EA

    更新日期:2019-06-01 00:00:00

  • [Analytical performances of SPAPLUS® turbidimeter for the dosage of immunoglobulins and beta-2 microglobulin in serum].

    abstract::We evaluated the analytical performances of the SPAPLUS(®) immunoturbidimeter assays manufactured by The Binding Site(®) for the quantification of thirteen immunological parameters in serum: IgG, IgA, IgM and IgD immunoglobulins, IgG subclasses (1 to 4), IgA subclasses (1 and 2), beta-2 microglobulin, free light chain...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2014.0974

    authors: Thevenet I,Benat C,Chauzeix J,Blancher A,Puissant-Lubrano B

    更新日期:2014-07-01 00:00:00

  • [Identification of gram-negative aerobic and non-fastidious aero-anaerobic bacilli using the ATB 32 GN system].

    abstract::ATB 32 GN was tested with 279 gram negative non fastidious rods = 188 Enterobacteriaceae and 91 non-enterobacteriaceae. This micro-method included 32 carbon substrate's assimilation tests, read and interpreted automatically after incubation for one or two days at 30 degrees C. 93.5 p. cent of all bacteria are correctl...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Croize J,Rouhan D,Le Noc P

    更新日期:1987-01-01 00:00:00

  • [Complications of infected aneurysm due to Salmonella enteritidis: a case report].

    abstract::Salmonelloses are becoming more frequented. To date, very few cases of aneurisms or vascular grafts infections have been described. We report the rare case of an extradigestive manifestation, due to Salmonella enteritidis affecting a patient with Behçet disease. The biological diagnosis is based on microorganism isola...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2010.0405

    authors: Oudaïna W,Rhissassi B,Lagmouchi M,Aboulmakarim S,Bensaid Y,Zouhdi M

    更新日期:2010-01-01 00:00:00

  • [Plasma assay of haloperidol by high performance liquid chromatography].

    abstract::Haloperidol is extracted with hexane-isoamyl alcohol in the presence of two internal standards, chlorohaloperidol and spiroperidol. For chromatographic separation, a C18 reversed-phase column and a mobile phase of acetonitrile/methanol/phosphate buffer are used. Detection is by UV absorption spectrophotometry at 245 n...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Hequet D,Jarry C,Rouquette C,Brachet-Liermain A

    更新日期:1985-01-01 00:00:00

  • [Capnocytophaga infections. Apropos of 8 cases].

    abstract::Eight Capnocytophaga infections are described: bacteremia in immunodepressed patients (three cases), endocarditis (one case), pneumopathy (one case), buccal infection (two cases) and endometritis during use of an intrauterine contraceptive device (one case). The role of this bacterium in infections presented by immuno...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Arlet G,Sanson-Le Pors MJ,Ortenberg M,Felten A,Perol Y

    更新日期:1986-01-01 00:00:00

  • [In vitro effect of Hordeum vulgare on the crystallization of calcium oxalate monohydrate (whewellite)].

    abstract::The recommended conservative treatment of hyperoxaluria is mainly based on hyperhydration and ingestion of inhibitors of crystallization. In accordance with this context, the aim of this study was to determine the in vitro effect of Hordeum vulgare on calcium oxalate crystallization oxalo-dependent. The crystallizatio...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2012.0770

    authors: Djaroud S,Harrache D,Amar A

    更新日期:2012-11-01 00:00:00

  • Condylomatous lesion (HPV infection) of uterine cervix. A clinical, colposcopic, cyto, histomorphological and immunohistochemical study.

    abstract::43, patients, subjected to cervical cytology, colposcopy and colposcopic directed biopsy, were found to have lesions suggestive of human Papillomavirus (HPV) infection by one or more parameters. Immunohistochemical staining for HPV antigen yielded positive results in 23 (53.5 p. cent) cases. Amongst 30 cases with HPV ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Luthra UK,Bhatnagar P,Das DK,Sharma BK,Kashyap V,Khan IU,Singh V,Murthy NS

    更新日期:1989-01-01 00:00:00

  • [Genetic causes of male infertility].

    abstract::In this review, after a brief summary of the spermatogenesis process, we present some genetic causes of male infertility at chromosome and gene level, known at present. Even though knowledge has greatly increased, in 15% of cases, we still do not know the infertility mechanism. The genotype-phenotype relationship rema...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Seifer I,Fellous M,Bignon Y

    更新日期:1999-05-01 00:00:00