Nutrition interventions in congenital disorders of glycosylation

被引：21

作者：

Boyer, Suzanne W. ^{[1
]}

Johnsen, Christin ^{[1
]}

Morava, Eva ^{[1
]}

机构：

[1] Mayo Clin Rochester, Dept Clin Genom, Rochester, MN 55905 USA

来源：

TRENDS IN MOLECULAR MEDICINE | 2022年 / 28卷 / 06期

关键词：

TERM-FOLLOW-UP; GALACTOSE SUPPLEMENTATION; PHOSPHOGLUCOMUTASE-1; DEFICIENCY; BIALLELIC MUTATIONS; SLC39A8; CDG; THERAPY; FUCOSE; MANAGEMENT; PATIENT;

D O I：

10.1016/j.molmed.2022.04.003

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Congenital disorders of glycosylation (CDG) are a group of more than 160 inborn errors of metabolism affecting multiple pathways of protein and lipid glycosylation. Patients present with a wide range of symptoms and therapies are only available for very few subtypes. Specific nutritional treatment options for certain CDG types include oral supplementation of monosaccharide sugars, manganese, uri-dine, or pyridoxine. Additional management includes specific diets (i.e., complex carbohydrate or ketogenic diet), iron supplementation, and albumin infusions. We review the dietary management in CDG with a focus on two subgroups: N-linked glycosylation defects and GPI-anchor disorders.

引用

页码：463 / 481

页数：19

共 90 条

[1] Brief report: Targeted therapy for inherited GPI deficiency. [J].

Almeida, Antonio M. ;

Murakami, Yoshiko ;

Baker, Alastair ;

Maeda, Yusuke ;

Roberts, Irene A. G. ;

Kinoshita, Taroh ;

Layton, D. Mark ;

Karadimitris, Anastasios .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (16) :1641-1647

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

Altassan, Ruqaiah ;

Radenkovic, Silvia ;

Edmondson, Andrew C. ;

Barone, Rita ;

Brasil, Sandra ;

Cechova, Anna ;

Coman, David ;

Donoghue, Sarah ;

Falkenstein, Kristina ;

Ferreira, Vanessa ;

Ferreira, Carlos ;

Fiumara, Agata ;

Francisco, Rita ;

Freeze, Hudson ;

Grunewald, Stephanie ;

Honzik, Tomas ;

Jaeken, Jaak ;

Krasnewich, Donna ;

Lam, Christina ;

Lee, Joy ;

Lefeber, Dirk ;

Marques-da-Silva, Dorinda ;

Pascoal, Carlota ;

Quelhas, Dulce ;

Raymond, Kimiyo M. ;

Rymen, Daisy ;

Seroczynska, Malgorzata ;

Serrano, Mercedes ;

Sykut-Cegielska, Jolanta ;

Thiel, Christian ;

Tort, Frederic ;

Vals, Mari-Anne ;

Videira, Paula ;

Voermans, Nicol ;

Witters, Peter ;

Morava, Eva .

JOURNAL OF INHERITED METABOLIC DISEASE, 2021, 44 (01) :148-163

[3] International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up [J].

Altassan, Ruqaiah ;

Peanne, Romain ;

Jaeken, Jaak ;

Barone, Rita ;

Bidet, Muad ;

Borgel, Delphine ;

Brasil, Sandra ;

Cassiman, David ;

Cechova, Anna ;

Coman, David ;

Corral, Javier ;

Correia, Joana ;

de la Morena-Barrio, Maria Eugenia ;

de Lonlay, Pascale ;

Dos Reis, Vanessa ;

Ferreira, Carlos R. ;

Fiumara, Agata ;

Francisco, Rita ;

Freeze, Hudson ;

Funke, Simone ;

Gardeitchik, Thatjana ;

Gert, Matthijs ;

Girad, Muriel ;

Giros, Marisa ;

Gruenewald, Stephanie ;

Hernandez-Caselles, Trinidad ;

Honzik, Tomas ;

Hutter, Marlen ;

Krasnewich, Donna ;

Lam, Christina ;

Lee, Joy ;

Lefeber, Dirk ;

Marques-de-Silva, Dorinda ;

Martinez, Antonio F. ;

Moravej, Hossein ;

Ounap, Katrin ;

Pascoal, Carlota ;

Pascreau, Tiffany ;

Patterson, Marc ;

Quelhas, Dulce ;

Raymond, Kimiyo ;

Sarkhail, Peymaneh ;

Schiff, Manuel ;

Seroczynska, Malgorzata ;

Serrano, Mercedes ;

Seta, Nathalie ;

Sykut-Cegielska, Jolanta ;

Thiel, Christian ;

Tort, Federic ;

Vals, Mari-Anne .

JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (01) :5-28

[4] Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome [J].

Babovic-Vuksanovic, D ;

Patterson, MC ;

Schwenk, WF ;

O'Brien, JF ;

Vockley, J ;

Freeze, HH ;

Mehta, DP ;

Michels, VV .

JOURNAL OF PEDIATRICS, 1999, 135 (06) :775-781

[5] Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) [J].

Barone, R. ;

Sturiale, L. ;

Fiumara, A. ;

Uziel, G. ;

Garozzo, D. ;

Jaeken, J. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (01) :107-107

[6] Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures [J].

Bayat, Allan ;

Pendziwiat, Manuela ;

Obersztyn, Ewa ;

Goldenberg, Paula ;

Zacher, Pia ;

Doering, Jan Henje ;

Syrbe, Steffen ;

Begtrup, Amber ;

Borovikov, Artem ;

Sharkov, Artem ;

Karasinska, Aneta ;

Gizewska, Maria ;

Mitchell, Wendy ;

Morava, Eva ;

Moller, Rikke S. ;

Rubboli, Guido .

FRONTIERS IN GENETICS, 2021, 12

[7] Fucose: biosynthesis and biological function in mammals [J].

Becker, DJ ;

Lowe, JB .

GLYCOBIOLOGY, 2003, 13 (07) :41R-53R

[8] Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up [J].

Bogdanska, Anna ;

Lipinski, Patryk ;

Szymanska-Rozek, Paulina ;

Jezela-Stanek, Aleksandra ;

Rokicki, Dariusz ;

Socha, Piotr ;

Tylki-Szymanska, Anna .

ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)

[9] CDG Therapies: From Bench to Bedside [J].

Brasil, Sandra ;

Pascoal, Carlota ;

Francisco, Rita ;

Marques-da-Silva, Dorinda ;

Andreotti, Giuseppina ;

Videira, Paula A. ;

Morava, Eva ;

Jaeken, Jaak ;

Ferreira, Vanessa dos Reis .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2018, 19 (05)

[10] An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation [J].

Brucker, William J. ;

Croteau, Stacy E. ;

Prensner, John R. ;

Cullion, Kate ;

Heeney, Matthew M. ;

Lo, Jeffrey ;

McAlvin, James B. ;

Peeler, Katherine ;

Shah, Nidhi ;

Yee, Christina S. K. ;

Berry, Gerard T. ;

Bodamer, Olaf .

JOURNAL OF INHERITED METABOLIC DISEASE, 2020, 43 (04) :880-890

← 1 2 3 4 5 6 7 8 9 →