{Reference Type}: Case Reports
{Title}: Isolated short stature as the only presenting symptom of glycogen storage disease type 0a in a Chinese child: A case report.
{Author}: Fu H;Yang A;Du C;Liang Y;
{Journal}: Medicine (Baltimore)
{Volume}: 103
{Issue}: 32
{Year}: 2024 Aug 9
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000039091
{Abstract}: <B>BACKGROUND: </B>Glycogen 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.<BR><B>METHODS: </B>A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.<BR><B>METHODS: </B>Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.<BR><B>METHODS: </B>Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.<BR><B>RESULTS: </B>After 3 years of treatment, the patient's height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.<BR><B>CONCLUSIONS: </B>This 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.