Glycogen storage disease type I

Knipe, Henry; Al-Islam, Shofiq

doi:10.53347/rid-58882

Cited by 4 publications

(8 citation statements)

References 4 publications

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“…The clinical scenario and laboratory parameters are consistent with type Ia GSD (232200). Some of the patients with type I GSD also have mild to severe neutropenia 8 . Total leukocyte count was normal in our patient.…”

Section: Discussionsupporting

confidence: 42%

“…It can only be achieved through early diagnosis. Undiagnosed and untreated children have abnormal cognitive development from recurrent hypoglycemic episodes as well as failure to thrive with delayed motor development, short stature 8 . Hence symptomatic management should be started based on presumptive diagnosis in resource limited settings where definitive diagnosis cannot be performed early/always.…”

Section: Discussionmentioning

confidence: 99%

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Glycogen storage disease in two sisters: A case report

Twanabasu,

Duwadee,

Homagain

et al. 2023

Clinical Case Reports

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Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.

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Section: Discussionsupporting

confidence: 42%

Section: Discussionmentioning

confidence: 99%

Glycogen storage disease in two sisters: A case report

Twanabasu,

Duwadee,

Homagain

et al. 2023

Clinical Case Reports

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“…In addition, most mouse models are homozygous for the knockout allele with complete defiency of hepatic G6PC activity, (23)(24)(25) which hampers the possibility of modeling variations in residual enzyme activities that are typically observed in GSD-1a patients. (2,6,26) This limits the translational value of such models with regard to the phenotypic heterogeneity observed in GSD-1a patients.…”

mentioning

confidence: 99%

“…(1) G6PC1 (G6pc in mice) encodes the enzyme that converts glucose-6-phosphate (G6P) into glucose in hepatocytes, kidney cells, and enterocytes. GSD-1a is biochemically characterized by (fasting) hypoglycemia, hyperlipidemia, hyperlactatemia, and hyperuricemia, (2) which are largely attributed to hepatocyte-specific impairment of G6PC activity. (3) In addition, patients display a severe hepatic phenotype, characterized by hepatomegaly attributable to the accumulation of glycogen and lipids.…”

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confidence: 99%

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR‐associated protein 9–Mediated Gene Editing

et al. 2021

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BaCKgRoUND aND aIMS: Patients with glycogen storage disease type 1a (GSD-1a) primarily present with lifethreatening hypoglycemia and display severe liver disease characterized by hepatomegaly. Despite strict dietary management, long-term complications still occur, such as liver tumor development. Variations in residual glucose-6-phosphatase (G6PC1) activity likely contribute to phenotypic heterogeneity in biochemical symptoms and complications between patients. However, lack of insight into the relationship between G6PC1 activity and symptoms/complications and poor understanding of the underlying disease mechanisms pose major challenges to provide optimal health care and quality of life for GSD-1a patients. Currently available GSD-1a animal models are not suitable to systematically investigate the relationship between hepatic G6PC activity and phenotypic heterogeneity or the contribution of gene-gene interactions (GGIs) in the liver.appRoaCH aND ReSUltS: To meet these needs, we generated and characterized a hepatocyte-specific GSD-1a mouse model using somatic CRISPR/CRISPR-associated protein 9 (Cas9)-mediated gene editing. Hepatic G6pc editing reduced hepatic G6PC activity up to 98% and resulted in failure to thrive, fasting hypoglycemia, hypertriglyceridemia, hepatomegaly, hepatic steatosis (HS), and increased liver tumor incidence. This approach was furthermore successful in simultaneously modulating hepatic G6PC and carbohydrate response element-binding protein, a transcription factor that is activated in GSD-1a and protects against HS under these conditions. Importantly, it also allowed for the modeling of a spectrum of GSD-1a phenotypes in terms of hepatic G6PC activity, fasting hypoglycemia, hypertriglyceridemia, hepatomegaly and HS. CoNClUSIoNS:In conclusion, we show that somatic CRISPR/Cas9-mediated gene editing allows for the modeling of a spectrum of hepatocyte-borne GSD-1a disease symptoms in mice and to efficiently study GGIs in the liver. This approach opens perspectives for translational research and will likely contribute to personalized treatments for GSD-1a and other genetic liver diseases.

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“…In terms of adjuvant medications, allopurinol can reduce uric acid levels in the blood stream if refractory, and granulocyte colony-stimulating factor (GCSF) can treat neutropenia in type Ib. More recently, sodium-glucose co-transporter 2 (SLGT2) inhibitor, such as Empaglifozin, has shown significant promise [7,9,10]. Treatment with GCSF should be considered prior to placing a gastrostomy tube as neutropenia causes poor wound healing and increased risk of wound infection [7].…”

Section: Treatmentmentioning

confidence: 99%

Update on glycogen storage disease: primary hepatic involvement

Wright

Umaña

Ramirez

2022

Current Opinion in Pediatrics

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Purpose of reviewGlycogen storage disease is a group of disorders primarily characterized by hepatomegaly and fasting hypoglycemia. This group of disorders may also affect the muscle, kidneys, and neurodevelopment. With an overall prevalence of 1 : 20 000, GSDs are disorders that clinicians should diagnose in a timely manner because adequate management can prevent complications, such as neurodevelopmental delay and liver disease [1]. As there are numerous types of GSDs, being able to distinguish one type from another can be overwhelming. In this review, we focus on hepatic GSDs to provide a concise review of clinical presentation, diagnosis, and current management.Recent findingsGSDs are considered rare disorders, and one of the main challenges is the delay in diagnosis, misdiagnosis, or under diagnosis. However, with molecular genetic testing now readily available, confirming the diagnosis is no longer as difficult or invasive as it was in the past.SummaryCurrent therapy for this group of disorders requires maintaining stable glucose levels. Avoiding hypoglycemia, as well as hyperglycemia, is critical in managing these patients. Being able to distinguish the types of GSDs and understanding the specific treatments for each enzymatic defect will optimize patient care.

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Glycogen storage disease type I

Cited by 4 publications

References 4 publications

Glycogen storage disease in two sisters: A case report

Glycogen storage disease in two sisters: A case report

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR‐associated protein 9–Mediated Gene Editing

Update on glycogen storage disease: primary hepatic involvement

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