Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

被引:18
作者
Abu Bakar, Nurulamin [1 ,2 ]
Voermans, Nicol C. [3 ]
Marquardt, Thorsten [4 ]
Thiel, Christian [5 ]
Janssen, Mirian C. H. [6 ]
Hansikova, Hana [7 ,8 ]
Crushell, Ellen [9 ]
Sykut-Cegielska, Jolanta [10 ]
Bowling, Francis [11 ]
Morkrid, Lars [12 ,13 ]
Vissing, John [14 ]
Morava, Eva [15 ]
van Scherpenzeel, Monique [16 ]
Lefeber, Dirk J.
机构
[1] Radboud Univ Nijmegen, Dept Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Translat Metab Lab, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Dept Neurol, Med Ctr, Nijmegen, Netherlands
[4] Uni Univ Hosp Muenster, Munster, Germany
[5] Heidelberg Univ, Ctr Child & Adolescent Med, Kinderheilkunde 1, Heidelberg, Germany
[6] Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, Nijmegen, Netherlands
[7] Charles Univ Prague, Dept Pediat & Adolescent Med, Fac Med 1, Prague, Czech Republic
[8] Gen Univ Hosp Prague, Prague, Czech Republic
[9] Univ Coll Dublin, Acad Ctr Rare Dis, Dublin, Ireland
[10] Inst Mother & Child Hlth, Dept Inborn Errors Metab & Paediat, Warsaw, Poland
[11] Mater Childrens Hosp, Biochem Dis, South Brisbane, Qld, Australia
[12] Univ Oslo, Fac Med, Inst Clin Biochem, Oslo, Norway
[13] Oslo Univ Hosp, Dept Med Biochem, Oslo, Norway
[14] Univ Copenhagen, Dept Neurol, Copenhagen, Denmark
[15] Mayo Clin, Dept Clin Genom, CIM, Rochester, MN USA
[16] Radboud Univ Nijmegen, Med Ctr, Translat Metab Lab, Nijmegen, Netherlands
基金
欧盟地平线“2020”; 美国国家卫生研究院;
关键词
CONGENITAL DISORDERS; N-GLYCAN; MASS-SPECTROMETRY; GALACTOSE SUPPLEMENTATION; INCREASED FUCOSYLATION; GLYCOSYLATION; IDENTIFICATION; METABOLISM; PHENOTYPE;
D O I
10.1016/j.trsl.2018.04.008
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Phosphoglucomutase 1 (PGM1) deficiency results in a mixed phenotype of a Glycogen Storage Disorder and a Congenital Disorder of Glycosylation (CDG). Screening for abnormal glycosylation has identified more than 40 patients, manifesting with a broad clinical and biochemical spectrum which complicates diagnosis. Together with the availability of D-galactose as dietary therapy, there is an urgent need for specific glycomarkers for early diagnosis and treatment monitoring. We performed glycomics profiling by high-resolution QTOF mass spectrometry in a series of 19 PGM1-CDG patients, covering a broad range of biochemical and clinical severity. Bioinformatics and statistical analysis were used to select glycomarkers for diagnostics and define glycan-indexes for treatment monitoring. Using 3 transferrin glycobiomarkers, all PGM1-CDG patients were diagnosed with 100% specificity and sensitivity. Total plasma glyco-profiling showed an increase in high mannose glycans and fucosylation, while global galactosylation and sialylation were severely decreased. For treatment monitoring, we defined 3 glycan-indexes, reflecting normal glycosylation, a lack of complete glycans (LOCGI) and of galactose residues (LOGI). These indexes showed improved glycosylation upon D-galactose treatment with a fast and near-normalization of the galactose index (LOGI) in 6 out of 8 patients and a slower normalization of the LOCGI in all patients. Total plasma glycoprofiling showed improvement of the global high mannose glycans, fucosylation, sialylation, and galactosylation status on D-galactose treatment. Our study indicates specific glycomarkers for diagnosis of mildly and severely affected PGM1-CDG patients, and to monitor the glycan-specific effects of D-galactose therapy.
引用
收藏
页码:62 / 76
页数:15
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