Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Luo, Xiaomei; Duan, Ying; Fang, Dan; Sun, Yu; Xiao, Bing; Zhang, Huiwen; Han, Lianshu; Liang, Lili; Gong, Zhuwen; Gu, Xuefan; Yu, Yongguo; Qiu, Wenjuan

doi:10.1002/humu.24345

Cited by 4 publications

(10 citation statements)

References 28 publications

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“…The most important symptom in this study was a distended abdomen with hepatomegaly, similar to several other studies. [ 11 , 13 , 14 ] However, many studies reported patients with short stature versus none in our study. [ 11 , 13 , 15 ] Case 2 showed developmental delay and was eventually diagnosed with autism.…”

Section: Discussioncontrasting

confidence: 53%

“…[ 11 , 13 , 14 ] However, many studies reported patients with short stature versus none in our study. [ 11 , 13 , 15 ] Case 2 showed developmental delay and was eventually diagnosed with autism. Other studies reported developmental delay or muscle hypotonia in patients with GSD VI[ 16 , 17 ] and autism in patients with GSD II,[ 18 ] but no studies have reported autism in patients with GSD VI.…”

Section: Discussionmentioning

confidence: 56%

“…All patients in this study showed elevated liver transaminases and hypertriglyceridaemia, while some patients showed fasting hypoglycaemia and postprandial hyperlactatemia, consistent with the findings of other studies. [ 4 , 11 , 13 , 17 , 19 , 20 ] All patients in this study showed hypovitaminosis D at the initial presentation, and other studies reported that abnormal bone mineralisation and osteopenia or osteoporosis may appear as complications of GSD VI. [ 2 , 8 ] Therefore, monitoring of 25-OH vitamin D levels and regular bone mineral density tests are recommended.…”

Section: Discussionmentioning

confidence: 56%

“…In our study cohort, the median age at diagnosis was 3.3 years old, comparable with other studies. [ 11 , 12 ] Case 5 showed abdominal distention at 1.7 years of age but was diagnosed at 6 years of age, suggesting that the diagnosis was considerably delayed. Other studies reported a delayed diagnosis[ 12 ] related to the disease characteristics of GSD VI.…”

Section: Discussionmentioning

confidence: 99%

“…To date, approximately 106 patients with GSD VI[ 5 , 11 – 14 , 17 , 23 , 24 ] and about 90 pathogenic PYGL variants have been reported[ 11 ]. Those in our study (c.1768 + 1G > A, p.[Arg576Gln], p.[Arg94Ter], and p.[Arg816Ter]) were reported in Israel[ 23 ], China[ 11 , 15 ], and Switzerland[ 12 ], respectively.…”

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic spectrum of GSD type 6 in Korea

Hahn

Lee

Seong

et al. 2023

Orphanet J Rare Dis

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Background Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, genetic analyses, and long-term outcomes of patients with GSD VI in Korea. Methods From January 2002 to November 2022, we retrospectively reviewed patients diagnosed with GSD VI using a gene panel at Seoul National University Hospital. We investigated the clinical profile, liver histology, molecular diagnosis, and long-term outcomes of patients with GSD VI. Results Five patients were included in the study. The age at onset was 18–30 months (median, 21 months), and current age was 3.7–17 years (median, 11 years). All patients showed hepatomegaly, elevated liver transaminase activity, and hypertriglyceridaemia. Hypercholesterolaemia and fasting hypoglycaemia occurred in 60% and 40% of patients, respectively. Ten variants of PYGL were identified, of which six were novel: five missense (p.[Gly607Val], p.[Leu445Pro], p.[Gly695Glu], p.[Val828Gly], p.[Tyr158His]), and one frameshift (p.[Arg67AlafsTer34]). All patients were treated with a high-protein diet, and four also received corn starch. All patients showed improved liver function tests, hypertriglyceridaemia, hepatomegaly, and height z score. Conclusions The GSD gene panel is a useful diagnostic tool for confirming the presence of GSD VI. Genetic heterogeneity was observed in all patients with GSD VI. Increased liver enzyme levels, hypertriglyceridaemia, and height z score in patients with GSD VI improved during long-term follow-up.

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Section: Discussioncontrasting

confidence: 53%

Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic spectrum of GSD type 6 in Korea

Hahn

Lee

Seong

et al. 2023

Orphanet J Rare Dis

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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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Glycogen storage diseases: An update

Gümüş¹,

Özen²

2023

World J Gastroenterol

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Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There are over 20 types of GSD including the subtypes. This heterogeneous group of rare diseases represents inborn errors of carbohydrate metabolism and are classified based on the deficient enzyme and affected tissues. GSDs primarily affect liver or muscle or both as glycogen is particularly abundant in these tissues. However, besides liver and skeletal muscle, depending on the affected enzyme and its expression in various tissues, multiorgan involvement including heart, kidney and/or brain may be seen. Although GSDs share similar clinical features to some extent, there is a wide spectrum of clinical phenotypes. Currently, the goal of treatment is to maintain glucose homeostasis by dietary management and the use of uncooked cornstarch. In addition to nutritional interventions, pharmacological treatment, physical and supportive therapies, enzyme replacement therapy (ERT) and organ transplantation are other treatment approaches for both disease manifestations and long-term complications. The lack of a specific therapy for GSDs has prompted efforts to develop new treatment strategies like gene therapy. Since early diagnosis and aggressive treatment are related to better prognosis, physicians should be aware of these conditions and include GSDs in the differential diagnosis of patients with relevant manifestations including fasting hypoglycemia, hepatomegaly, hypertransaminasemia, hyperlipidemia, exercise intolerance, muscle cramps/pain, rhabdomyolysis, and muscle weakness. Here, we aim to provide a comprehensive review of GSDs. This review provides general characteristics of all types of GSDs with a focus on those with liver involvement.

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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China

Cited by 4 publications

References 28 publications

Clinical and genetic spectrum of GSD type 6 in Korea

Clinical and genetic spectrum of GSD type 6 in Korea

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

Glycogen storage diseases: An update

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