Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.

نویسندگان

  • T Dupre
  • M Cuer
  • S Barrot
  • A Barnier
  • V Cormier-Daire
  • A Munnich
  • G Durand
  • N Seta
چکیده

References 1. McCormack RT, Rittenhouse HG, Finlay JA, Sokoloff RL, Wang TJ, Wolfert RL, et al. Molecular forms of prostate-specific antigen and the human kallikrein gene family: a new era. Urology 1995;45:729–44. 2. Van Cangh PJ, De Nayer P, Sauvage P, Tombal B, Elsen M, Lorge F, et al. Free to total prostate-specific antigen (PSA) ratio is superior to total PSA in differentiating benign prostate hypertrophy from prostate cancer. Prostate Suppl 1996;7:30–4. 3. Catalona WJ, Partin AW, Slawin KM, Brawer MK, Flanigan RC, Patel A, et al. Use of the percentage of free prostate specific antigen to enhance differentiation of prostate cancer from benign prostatic disease: a prospective multicenter clinical trial. JAMA 1998;279:1542–7. 4. Woodrum DL, Brawer MK, Partin AW, Catalona WJ, Southwick PC. Interpretation of free prostate specific antigen clinical research studies for the detection of prostate cancer. J Urol 1998;159:5–12. 5. National Committee for Clinical Laboratory Standards. Evaluation of precision performance of clinical chemistry devices; approved guideline. NCCLS guideline EP5-A. Wayne, PA: NCCLS, February 1999. 6. National Committee for Clinical Laboratory Standards. Interference testing in clinical chemistry; proposed guideline. NCCLS guideline EP7-P. Villanova, PA: NCCLS, August 1986. 7. Woodrum DL, French C, Shamel LB. Stability of free PSA in serum samples under a variety of sample collection and sample storage conditions. Urology 1996;48(Suppl 6A):33–9. 8. Woodrum DL, York L. Two-year stability of free and total PSA in frozen serum samples. Urology 1998;52:247–51. 9. Blase AB, Sokloff RL, Smith KM. Five PSA methods compared by assaying samples with defined PSA ratios [Technical Brief]. Clin Chem 1997;43: 843–4. 10. Strobel SA, Sokoloff RL, Wolfert RL, Rittenhouse HG. Multiple forms of prostate specific antigen in serum measured differently in equimolar-and skewed-response assays [Letter]. Clin Chem 1995;41:125–7. 11. Semjonow A, Oberpenning F, Brandt B, Zechel C, Brandau W, Hertle L. Impact of free prostate-specific antigen on discordant measurement results of assay for total prostate-specific antigen. Urology 1996;48:10–5. 12. Sokoll LJ, Chan DW. Total, free, and complexed PSA: analysis and clinical utility. J Clin Ligand Assay 1998;21:171–9.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.

Dr. Jaime Moritz Brum – Laboratório de Genética Bioquímica 00SMHS Quadra 501 Bloco A 70335-901 Brasília DF Brasil. E-mail: [email protected] Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids. The first disease of this group was reported in 1980. Since then, at leas...

متن کامل

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have red...

متن کامل

Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.

In fibroblasts from five patients with carbohydrate-deficient glycoprotein syndrome type 1, the incorporation of [2-3H] mannose into mannose phosphates, GDP-mannose, GDP-fucose, dolichol-P-mannose, lipid-linked oligosaccharides, and glycoprotein fraction was determined. We observed a 3- to 5-fold reduction of incorporation of radioactivity into mannose 1-phosphate, GDP-mannose, GDP-fucose, doli...

متن کامل

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)*

PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human. PMM2-CDG is a multisystemic disease with severe psychomotor and mental retardation. In order to study the pathophysiology of PMM2-CDG in ...

متن کامل

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG).

Congenital Disorders of Glycosylation (CDG) are human deficiencies in glycoprotein biosynthesis. Previous studies showed that 1 mM mannose corrects defective protein N-glycosylation in cultured fibroblasts from some CDG patients. We hypothesized that these CDG cells have limited GDP-mannose (GDP-Man) and that exogenous mannose increases the GDP-Man levels. Using a well established method to mea...

متن کامل

Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.

We report a new application of affinity capture-elution electrospray mass spectrometry (ACESI-MS) to assay the enzymes phosphomannomutase (PMM) and phosphomannose isomerase (PMI), which when deficient cause congenital disorders of glycosylation CDG-type Ia and type Ib, respectively. The novel feature of this mass-spectrometry-based assay is that it allows one to distinguish and quantify enzymat...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Clinical chemistry

دوره 47 1  شماره 

صفحات  -

تاریخ انتشار 2001