Mutation analysis of <i>SLC37A4</i> in a patient with glycogen storage disease-type Ib

Zhang, Yamei; Sun, Huihui; Wan, Naijun

doi:10.1177/0300060519867819

Cited by 4 publications

(2 citation statements)

References 24 publications

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“…In a Chinese family with GSD Ib, the G6PT1 gene was analyzed, and the results indicated that the family members carried maternal c.572C>T (p.P191L) mutation and paternal c.446G>A (p.G149E) mutation. Recently, a Chinese patient with GSD Ib was found compoundly heterozygous for the c.572C>T (p.P191L) (maternal source) mutation and a novel paternal c.359C>T (p.P120L) mutation (9). However, the heterozygous mutation of c.1043T>C (p.L348P) from the paternal source has not been reported before.…”

Section: Discussionmentioning

confidence: 99%

“…At the genetic level, severely increased TG levels resulting from type I hyperlipoproteinemia was shown to be caused by LPL deficiency (OMIM#238600) (7,8). Though LPL mutation in patients with hypertriglyceridemia has been reported (9), a combination of an LPL gene frameshift mutation with compound heterozygous mutations of the SLC37A4 gene is rare.…”

Section: Introductionmentioning

confidence: 99%

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A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

Wang

Zhou

et al. 2021

Front. Pediatr.

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Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in the glucose 6-phosphate transport gene SLC37A4 (OMIM# 602671). This study aimed to explore the association between a novel lipoprotein lipase (LPL) mutation and severe hypertriglyceridemia in a GSD Ib infant with severe hypertriglyceridemia. A 5-month-old girl was admitted to our hospital because of repeated episodes of low-grade fever over the past month and because of neutropenia. The patient was diagnosed with GSD Ib and severe hypertriglyceridemia based on clinical manifestations and laboratory test results. Next-generation sequencing and Sanger sequencing were then applied to DNA from the peripheral blood of the patient and her parents to analyze gene mutations. Pathogenicity prediction analysis was performed using Sorting Intolerant From Tolerant (SIFT) and PolyPhen-2 platforms. The results revealed that this infant carried a compound heterozygous variation in the SLC37A4 gene, a c.1043T > C (p.L348P) mutation derived from her mother and a c.572C > T (p.P191L) mutation derived from her father. In addition, a novel c.483delA (p. A162Pfs*10) frameshift mutation was found in the patient's LPL gene exon 4, which was derived from the heterozygous carrier of her father. The SIFT and PolyPhen-2 prediction programs indicated that these mutations were likely harmful. Medium-chain triglyceride milk and granulocyte colony-stimulating factor subcutaneous injection alleviated the symptoms. Our findings identified a novel LPL gene frameshift mutation combined with SLC37A4 gene compound heterozygous mutations in a GSD Ib infant with severe hypertriglyceridemia.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

Wang

Zhou

et al. 2021

Front. Pediatr.

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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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Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

Cited by 4 publications

References 24 publications

A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

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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