Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Jacoby, Jesica Tamara; Santos, Bruna Bento dos; Nalin, Tatiéle; Colonetti, Karina; Refosco, Lı́lia Farret; Souza, Carolina Fischinger Moura de; Spritzer, Poli Mara; Poloni, Soraia; Hack-Mendes, Roberta; Schwartz, Ida Vanessa Döederlein

doi:10.3390/nu13092987

Cited by 5 publications

(3 citation statements)

References 47 publications

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“…Long-term consequences of GSDIa if left untreated include growth retardation, delayed puberty, gout, arterial and (rarely) pulmonary hypertension, osteoporosis or osteopenia [32], polycystic ovary syndrome, HCA, hepatocellular carcinoma (HCC), chronic renal disease and renal failure, neuropathy, and cognitive delays and epilepsy because of repeated or severe hypoglycaemic events [9,23,24]. Nutritional deficiencies (protein and vitamin B12, folic acid and vitamin D) are often observed in treated individuals because of the dietary restrictions and lack of appetite associated with daily UCCS supplementation to prevent hypoglycaemia; therefore, a complete multivitamin is recommended [24].…”

Section: Pathophysiology and Clinical Manifestationsmentioning

confidence: 99%

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

et al. 2021

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Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed.

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Section: Pathophysiology and Clinical Manifestationsmentioning

confidence: 99%

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

et al. 2021

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“…Cystic fibrosis [46], Ehlers-Danlos [47], Gaucher's disease [48], Glycogen storage diseases [49,50], Hemochromatosis [51], Homocystinuria [52], Hypophosphatasia [53], Marfan syndrome [54], Menkes steely hair syndrome [55], Osteogenesis imperfecta [56], Parental history of hip fracture [57], Porphyria [58] Hypogonadal states Androgen insensitivity syndrome [59], Anorexia nervosa [60],…”

Section: Genetic Diseasesmentioning

confidence: 99%

Osteoporosis Etiology, Epidemiology, Diagnosis, Diet, and Treatment: A Narrative Review

Foroutan

2024

OBM Geriatr

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This narrative review aimed to select, gather, and present inclusive evidence about osteoporosis etiology, epidemiology, diagnosis, diet, and treatment. We searched PubMed and Google using these terms: osteoporosis AND etiology, osteoporosis AND epidemiology, osteoporosis AND diagnosis, osteoporosis AND diet, and osteoporosis AND treatment. Each title of the extracted manuscripts was read first. If deemed suitable, the abstracts of the manuscripts and text were read carefully. Afterward, the details of each term were selected, put together, and summarized. The review attempted to find associated literature up to the beginning of 2022. Limits were used to restrict the search to English language publications. Several 3988 manuscripts relevant to the search objectives were retrieved. The results were analyzed and presented with important evidence to shape this narrative review. Osteoporosis leads to bone fragility, disability, and risk of fracture. These events cause many problems, particularly in the elderly. The publication of narrative review articles can provide helpful information such as timely disease diagnosis, prescribing the most appropriate medicines, correct nutrition methods, and prevention strategies to clinicians and their patients. It is suggested that the results of such studies be included in the agenda of relevant organizations such as the WHO.

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“…Patients with GSD-I have hypovitaminosis D despite adequate supplementation[ 38 ]. Low bone mineral density is a long-term complication of GSD-I particularly in those with poor metabolic control[ 39 , 40 ]. Osteoporosis may arise as a consequence of poor nutrition, chronic lactic acidosis and hypogonadism[ 41 ].…”

Section: Gsds Involving Livermentioning

confidence: 99%

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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Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Cited by 5 publications

References 47 publications

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Osteoporosis Etiology, Epidemiology, Diagnosis, Diet, and Treatment: A Narrative Review

Glycogen storage diseases: An update

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