TY - JOUR
T1 - Aggressive therapy improves cirrhosis in glycogen storage disease type IX
AU - Tsilianidis, Laurie A.
AU - Fiske, Laurie M.
AU - Siegel, Sara
AU - Lumpkin, Chris
AU - Hoyt, Kate
AU - Wasserstein, Melissa
AU - Weinstein, David A.
N1 - Funding Information:
Support for this project was provided in part by the National Institutes of Health (NIH) and the National Center for Research Resources (NCRR) CTSA grant UL1 TR000064 (University of Florida). Philanthropic assistance was provided from Matthew's GSD Type IX Fund and the Sturtz GSD Research Fund which are managed through the University of Florida Office of Development.
PY - 2013/6
Y1 - 2013/6
N2 - Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.
AB - Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.
KW - Cirrhosis
KW - GSD
KW - Glycogen storage disease type IX
KW - PhK
KW - Treatment
KW - XLG
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U2 - 10.1016/j.ymgme.2013.03.009
DO - 10.1016/j.ymgme.2013.03.009
M3 - Article
C2 - 23578772
AN - SCOPUS:84878519131
SN - 1096-7192
VL - 109
SP - 179
EP - 182
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -