title: Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
abstract: 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.
authors.affiliation: Division of Pediatric and Adolescent Endocrinology, Glycogen Storage Disease Program, Cleveland Clinic Foundation, Cleveland, OH, USA.
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Tsilianidis
authors.forename: Laurie M
authors.initials: LM
authors.lastname: Fiske
authors.forename: Sara
authors.initials: S
authors.lastname: Siegel
authors.forename: Chris
authors.initials: C
authors.lastname: Lumpkin
authors.forename: Kate
authors.initials: K
authors.lastname: Hoyt
authors.forename: Melissa
authors.initials: M
authors.lastname: Wasserstein
authors.forename: David A
authors.initials: DA
authors.lastname: Weinstein
mesh_terms: D000284:Administration, Oral; D002648:Child; D004044:Dietary Proteins / Q000008:administration & dosage*; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000178:diet therapy; D006801:Humans; D008297:Male; D013213:Starch / Q000008:administration & dosage*; D016896:Treatment Outcome
chemical_list: D004044:Dietary Proteins; D013213:Starch