Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone

Wu, Shimin; Guo, Shusen; Fu, Lei; Du, Caiqi; Luo, Xiaoping

doi:10.3389/fped.2022.921323

Cited by 3 publications

(1 citation statement)

References 17 publications

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“…IGF-1 was significantly decreased in the younger sister, but not in the older sister, suggesting that growth retardation may result from a combination of causes; however, the safety and efficacy of GH in GSD Ia patients remains controversial 1 . Successful cases have been reported previously [ 18 ] ; however, GH treatment may also increase the risk of liver adenoma, which can progress to hepatocellular carcinoma, a severe and fatal condition. [ 19 ] The younger sister was observed after basic treatment, and, if necessary, GH therapy could be attempted under close monitoring.…”

Section: Case Reportmentioning

confidence: 99%

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Liu

Huilin

et al. 2022

Medicine

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Rationale: Glycogen storage disease (GSD) is a glycogen metabolism disorder caused by congenital enzyme defects, with type I being the most common. Owing to the rarity of glycogen storage disease type Ia (GSD Ia) and the involvement of diverse systems, patients are prone to delayed diagnosis and inappropriate treatment. Additional studies are required to standardize the diagnosis and treatment of GSD Ia. Patient concerns: We report 2 cases of GSD Ia that occurred in 2 sisters. The elder sister also had recurrent pancreatitis, and the pancreatic pseudocyst rupture resulted in sepsis, portal hypertension, and splenic infarction. The younger sister had the same mutation site, but the clinical phenotypes were not identical. Diagnosis: Abdominal computed tomography and laboratory examinations revealed regional portal hypertension, splenic infarction, and sepsis in the elder sister; diagnosis was confirmed by whole exome sequencing. Sanger sequencing was used to confirm that the younger sister and their parents also had the mutation site. Interventions: The elder sister was treated with corn starch therapy, and medication for antiinfection and reducing hypertriglyceridemia, inhibiting trypsin activity, relieving hyperuricemia. The younger sister was treated with raw cornstarch-based nutritional therapy and sodium bicarbonate. Outcomes: The elder sister’s infection was controlled and she gradually returned to a normal diet. After discharge, hyperlipidemia was not controlled satisfactorily, but hypoglycemia, hyperuricemia, hyperlactatemia, and anemia improved. Lessons: GSD should be considered in childhood patients with hypoglycemia, hypertriglyceridemia, hyperuricemia, and hyperlactatemia. Gene sequencing can enable quick identification of GSD subtypes. This case report highlights the common clinical manifestations can be linked to rare diseases. Clinical work requires careful observation of the correlations between patient history, physical examinations, and laboratory examinations.

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Section: Case Reportmentioning

confidence: 99%

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Liu

Huilin

et al. 2022

Medicine

View full text Add to dashboard Cite

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Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

Jackson,

Koch,

Pendyal

et al. 2023

JIMD Reports

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Glycogen storage disease Ia (GSD Ia), also known as von Gierke disease, is caused by pathogenic variants in the G6PC1 gene (OMIM 232200) which encodes glucose‐6‐phosphatase. Deficiency of glucose‐6‐phosphatase impairs the processes of gluconeogenesis and glycogenolysis by preventing conversion of glucose‐6‐phosphate to glucose. Clinical features include fasting hypoglycemia, lactic acidosis, hypertriglyceridemia, hyperuricemia, hepatomegaly, and development of hepatocellular adenomas (HCAs) with potential for malignant transformation. Additionally, patients with GSD Ia often exhibit short stature, in some instances due to growth hormone (GH) deficiency. Patients with short stature caused by GH deficiency typically receive GH injections. Here, we review the literature and describe a female with GSD Ia who had short stature, failure of growth progression, and suspected GH deficiency. This patient received GH injections from ages 11 to 14 years under careful monitoring of an endocrinologist and developed HCAs during that time. To date, there is no reported long‐term follow up data on patients with GSD Ia who have received GH therapy, and therefore the clinical outcomes post‐GH therapy are unclear.

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Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

Rossi,

Simeoli,

Pivonello

et al. 2024

Rev Endocr Metab Disord

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Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered by the (dietary/medical) treatment. Being aware of the endocrine abnormalities occurring in hepatic GSDs is essential (1) to provide optimized medical care to this group of individuals and (2) to drive research aiming at understanding the disease pathophysiology. In this review, a thorough description of the endocrine manifestations in individuals with hepatic GSDs is presented, including pathophysiological and clinical implications.

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Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone

Cited by 3 publications

References 17 publications

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

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