A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

被引:5
作者
Wilke, Matheus Vernet Machado Bressan [1 ,2 ]
de Oliveira, Bibiana Mello [1 ,3 ]
Starosta, Rodrigo Tzovenos [4 ]
Shinawi, Marwan [4 ]
Lu, Liang [5 ]
He, Mai [5 ]
Ma, Yamin [5 ]
Stoll, Janis [6 ]
de Souza, Carolina Fischinger Moura [1 ,7 ]
de Siqueira, Ana Cecilia Menezes [8 ]
Vieira, Sandra Maria Goncalves [9 ]
Cerski, Carlos Thadeu [10 ]
Refosco, Lilia Farret [1 ]
Schwartz, Ida Vanessa Doederlein [1 ,2 ,3 ,11 ,12 ]
机构
[1] Hosp Clin Porto Alegre, Med Genet Serv, Ramiro Barcelos St, 2350,3rd Floor, BR-90035903 Porto Alegre, Brazil
[2] Univ Fed Rio Grande, Post Grad Program Ciencias Saude, BR-90035903 Porto Alegre, Brazil
[3] Univ Fed Rio Grande, Post Grad Program Genet & Mol Biol, BR-90035903 Porto Alegre, Brazil
[4] Washington Univ St Louis, Div Med Genet & Genom, St Louis, MO 63130 USA
[5] Washington Univ St Louis, Dept Pathol & Immunol, St Louis, MO 63130 USA
[6] Washington Univ St Louis, Div Pediat Gastroenterol Hepatol & Nutr, St Louis, MO 63130 USA
[7] Univ Fed Rio Grande do Sul, Postgrad Program Child & Adolescent Hlth, BR-90035903 Porto Alegre, Brazil
[8] Inst Med Integral Prof Fernando Figueira, Treatment Ctr Inborn Errors Metab, BR-50070902 Recife, Brazil
[9] Hosp Clin Porto Alegre, Pediat Gastroenterol Serv, BR-90035903 Porto Alegre, Brazil
[10] Hosp Clin Porto Alegre, Pathol Serv, BR-90035903 Porto Alegre, Brazil
[11] Univ Fed Rio Grande do Sul, Dept Genet, BR-90035903 Porto Alegre, Brazil
[12] Hosp Clin Porto Alegre, BRAIN Lab, BR-90035903 Porto Alegre, Brazil
关键词
glycogen storage disease IV; liver transplantation; dietary treatment; BRANCHING ENZYME DEFICIENCY; POLYGLUCOSAN BODY DISEASE;
D O I
10.3390/biomedicines11020363
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
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges from neonatal death to mild adult-onset disease with variable hepatic, muscular, neurologic, dermatologic, and cardiac involvement. There is a paucity of literature and clinical and dietary management in GSD IV, and liver transplantation (LT) is described to correct the primary hepatic enzyme defect. Objectives: We herein describe five cases of patients with GSD IV with different ages of onset and outcomes as well as a novel GBE1 variant. Methods: This is a descriptive case series of patients receiving care for GSD IV at Reference Centers for Rare Diseases in Brazil and in the United States of America. Patients were selected based on confirmatory GBE1 genotypes performed after strong clinical suspicion. Results: Pt #1 is a Latin male with the chief complaints of hepatosplenomegaly, failure to thrive, and elevated liver enzymes starting at the age of 5 months. Before LT at the age of two, empirical treatment with corn starch (CS) and high protein therapy was performed with subjective improvement in his overall disposition and liver size. Pt #2 is a 30-month-old Afro-American descent patient with the chief complaints of failure to gain adequate weight, hypotonia, and hepatosplenomegaly at the age of 15 months. Treatment with CS was initiated without overall improvement of the symptoms. Pt #3.1 is a female Latin patient, sister to pt #3.2, with onset of symptoms at the age of 3 months with bloody diarrhea, abdominal distention, and splenomegaly. There was no attempt of treatment with CS. Pt #4 is an 8-year-old male patient of European descent who had his initial evaluation at 12 months, which was remarkable for hepatosplenomegaly, elevated ALT and AST levels, and a moderate dilatation of the left ventricle with normal systolic function that improved after LT. Pt #1, #3.2 and #4 presented with high levels of chitotriosidase. Pt #2 was found to have the novel variant c.826G > C p.(Ala276Pro). Conclusions: GSD IV is a rare disease with different ages of presentation and different cardiac phenotypes, which is associated with high levels of chitotriosidase. Attempts of dietary intervention with CS did not show a clear improvement in our case series.
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相关论文
共 20 条
[1]   Pediatric hemophagocytic lymphohistiocytosis [J].
Canna, Scott W. ;
Marsh, Rebecca A. .
BLOOD, 2020, 135 (16) :1332-1343
[2]   Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family [J].
Colombo, I. ;
Pagliarani, S. ;
Testolin, S. ;
Salsano, E. ;
Napoli, L. M. ;
Bordoni, A. ;
Salani, S. ;
D'Adda, E. ;
Morandi, L. ;
Farina, L. ;
Magri, F. ;
Riva, M. ;
Prelle, A. ;
Sciacco, M. ;
Comi, G. P. ;
Moggio, M. .
NEUROMUSCULAR DISORDERS, 2015, 25 (05) :423-428
[3]   The potential of dietary treatment in patients with glycogen storage disease type IV [J].
Derks, Terry G. J. ;
Peeks, Fabian ;
de Boer, Foekje ;
Fokkert-Wilts, Marieke ;
van der Doef, Hubert P. J. ;
van den Heuvel, Marius C. ;
Szymanska, Edyta ;
Rokicki, Dariusz ;
Ryan, Patrick T. ;
Weinstein, David A. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2021, 44 (03) :693-704
[4]   Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population [J].
Ersoy, Melike ;
Uyanik, Bulent ;
Gedikbasi, Asuman .
GENES, 2021, 12 (12)
[5]   Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions [J].
Farwell, Kelly D. ;
Shahmirzadi, Layla ;
El-Khechen, Dima ;
Powis, Zoee ;
Chao, Elizabeth C. ;
Davis, Brigette Tippin ;
Baxter, Ruth M. ;
Zeng, Wenqi ;
Mroske, Cameron ;
Parra, Melissa C. ;
Gandomi, Stephanie K. ;
Lu, Ira ;
Li, Xiang ;
Lu, Hong ;
Lu, Hsiao-Mei ;
Salvador, David ;
Ruble, David ;
Lao, Monica ;
Fischbach, Soren ;
Wen, Jennifer ;
Lee, Shela ;
Elliott, Aaron ;
Dunlop, Charles L. M. ;
Tang, Sha .
GENETICS IN MEDICINE, 2015, 17 (07) :578-586
[6]   Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design [J].
Froese, D. Sean ;
Michaeli, Amit ;
McCorvie, Thomas J. ;
Krojer, Tobias ;
Sasi, Meitav ;
Melaev, Esther ;
Goldblum, Amiram ;
Zatsepin, Maria ;
Lossos, Alexander ;
Alvarez, Rafael ;
Escriba, Pablo V. ;
Minassian, Berge A. ;
von Delft, Frank ;
Kakhlon, Or ;
Yue, Wyatt W. .
HUMAN MOLECULAR GENETICS, 2015, 24 (20) :5667-5676
[7]  
Hizarcioglu-Gulsen H, 2014, JIMD REP, V17, P63, DOI 10.1007/8904_2014_335
[8]   Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review [J].
Iijima, Hiroyuki ;
Iwano, Reiko ;
Tanaka, Yukichi ;
Muroya, Koji ;
Fukuda, Tokiko ;
Sugie, Hideo ;
Kurosawa, Kenji ;
Adachi, Masanori .
MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 17 :31-37
[9]   Chitotriosidase as a biomarker for gangliosidoses [J].
Kim, Sarah ;
Whitley, Chester B. ;
Jarnes, Jeanine R. .
MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 29
[10]   Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV [J].
Lee, Yi-Ching ;
Chang, Chia-Jung ;
Bali, Deeksha ;
Chen, Yuan-Tsong ;
Yan, Yu-Ting .
HUMAN MOLECULAR GENETICS, 2011, 20 (03) :455-465