Generation of human induced pluripotent stem cell line, KRIBBi003-A, from urinary cells of a patient with glycogen storage disease type IXa.

Glycogen storage disease type IXa (GSD IXa) is a rare genetic disorder characterized by phosphorylase kinase (PhK) deficiency, which leads to excessive glycogen accumulation in the liver. Urinary cells (UCs) were isolated from a GSD IXa patient and reprogrammed into induced pluripotent stem cells (iPSCs) using Sendai virus. The established iPSC line, KRIBBi003-A, exhibited pluripotency marker expression and a normal karyotype. The differentiation capacity of the cell line was confirmed by the differentiation of the three germ layers in vitro. The established iPSC line is a potential useful resource for disease modeling of GSD IXa.

Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa

Abstract Glycogen storage disease type IXa (GSD IXa) presents in childhood with hepatomegaly, poor growth, and ketotic hypoglycemia. Clinical course is usually mild, often not requiring treatment with attenuation of symptoms with increasing age. The phenotypic spectrum has recently expanded to include more severe involvement with hepatic fibrosis or cirrhosis warranting dietary therapy. We report a 2-year-old boy with a severe phenotype of GSD IXa presenting with a massive hepatomegaly, significant transaminitis, recurrent ketotic hypoglycemia, and short stature. Aggressive dietary management with regular feeds, frequent uncooked cornstarch doses, and protein supplementation resulted in clinical improvements including enhanced growth velocity, energy levels, overall well-being, and reduction in hepatomegaly with restitutions in biochemical parameters. We concur with a recent report which proposed that GSD IXa is not always a mild condition but instead part of an expanding phenotypic spectrum warranting intensive dietary management to optimize metabolic control and quality of life.

Bariatric surgery is not contraindicated in obese patients suffering from glycogen storage disease type IXa. A case report with follow-up at three years.

INTRODUCTION: Glucose storage disease type IXa (GSD IXa) is an uncommon condition presenting with childhood onset hepatomegaly, growth retardation, and often, fasting ketosis and hypoglycemia. Despite its benign course, the lack of dietary counseling may favor uncontrolled weight gain. We investigated the efficacy of bariatric surgery in one 17 years old female suffering from GSD IXa and morbid obesity. PRESENTATION OF CASE: The diagnosis was GSD type IXa in a patient with a body mass index (BMI) of 45.5kg/m(2). Onset of hypoglycemia was reported twice each month. She was treated her implanting an adjustable gastric banding through laparoscopy. Three years after surgery the patient presents a BMI of 30.1kg/m(2) and an excess of weight loss (EWL) of 71.1%. Only once, following surgery, she had to deflate her band to allow a faster transit of food through her stomach, thus reaching a prompt euglycemic condition, due to an incoming hypoglycemic crisis. DISCUSSION: Laparoscopic adjustable gastric banding (LAGB) is one of the most used approaches to treat morbid obesity. It is a restrictive procedure unable to affect the absorption of any nutrient, presenting a very low intra and perioperative complication rate. In our GSD IXa patient, it offered a prompt modification of food intake restriction whenever requested, thus avoiding hypoglycemia. CONCLUSION: LAGB is effective in determining weight loss without inducing significant side effects or worsening hypoglycemia, in this morbid obese patient, suffering from GSD type IXa.