• Hao Fu, Aoyu Yang, Caiqi Du, and Yan Liang.
• Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
• Medicine (Baltimore). 2024 Aug 9; 103 (32): e39091e39091.

RationaleGlycogen storage disease type 0a (GSD0a) is a rare autosomal recessive disorder caused by glycogen synthase deficiency. Short stature is a characteristic feature in 29% of GSD0a patients, but isolated short stature as the only presenting symptom is exceedingly rare, with only 2 cases reported worldwide.Patient ConcernsA 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.DiagnosesBased on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.InterventionsUncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.OutcomesAfter 3 years of treatment, the patient's height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.LessonsThis case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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