A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
Autor: | Anna K. Paschall, Kristen L. Deak, Ghada Hijazi, Areeg El-Gharbawy, Brian Smith, Surekha Pendyal, Stephanie Austin, Priya S. Kishnani, Sarah P. Young, Tracy Boggs, Andrew J. Muir, Laura E. Case, Sathya Amarasekara |
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Rok vydání: | 2021 |
Předmět: |
Medicine (General)
LDL Low density lipoproteins Cirrhosis HDL High density lipoprotein MRI Magnetic resonance imaging Endocrinology Diabetes and Metabolism Cardiomyopathy Glycogen storage disease type III Biochemistry Glycogen storage disease type III (GSD III) Liver disease Endocrinology and myopathy Biology (General) GDE Glycogen debrancher enzyme LT liver transplantation Ejection fraction TGs Triglycerides CPK Creatine phosphokinase US Ultrasound Biomarker (medicine) GGT Gamma glutamyl transferase medicine.symptom AST Aspartate aminotransferase Research Paper GSD Glycogen storage disease medicine.medical_specialty QH301-705.5 BMI Body mass index CEA Carcinoembryonic antigen Asymptomatic AFP Alpha-fetoprotein R5-920 Internal medicine CT scan Computerized tomography scan Genetics medicine Molecular Biology BG Blood glucose business.industry Glc4 Glucose tetrasaccharide ALT Alanine aminotransferase Muscle weakness DM Diabetes mellitus Left ventricular hypertrophy (LVH) medicine.disease Hypoglycemia business |
Zdroj: | Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100821-(2021) Molecular Genetics and Metabolism Reports |
ISSN: | 2214-4269 |
Popis: | Introduction A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods To describe longitudinal biochemical, radiological, muscle strength and ambulation, liver histopathological findings, and clinical outcomes in adults (≥18 years) with glycogen storage disease type III, by a retrospective review of medical records. Results Twenty-one adults with GSD IIIa (14 F & 7 M) and four with GSD IIIb (1 F & 3 M) were included in this natural history study. At the most recent visit, the median (range) age and follow-up time were 36 (19–68) and 16 years (0–41), respectively. For the entire cohort: 40% had documented hypoglycemic episodes in adulthood; hepatomegaly and cirrhosis were the most common radiological findings; and 28% developed decompensated liver disease and portal hypertension, the latter being more prevalent in older patients. In the GSD IIIa group, muscle weakness was a major feature, noted in 89% of the GSD IIIa cohort, a third of whom depended on a wheelchair or an assistive walking device. Older individuals tended to show more severe muscle weakness and mobility limitations, compared with younger adults. Asymptomatic left ventricular hypertrophy (LVH) was the most common cardiac manifestation, present in 43%. Symptomatic cardiomyopathy and reduced ejection fraction was evident in 10%. Finally, a urinary biomarker of glycogen storage (Glc4) was significantly associated with AST, ALT and CK. Conclusion GSD III is a multisystem disorder in which a multidisciplinary approach with regular clinical, biochemical, radiological and functional (physical therapy assessment) follow-up is required. Despite dietary modification, hepatic and myopathic disease progression is evident in adults, with muscle weakness as the major cause of morbidity. Consequently, definitive therapies that address the underlying cause of the disease to correct both liver and muscle are needed. |
Databáze: | OpenAIRE |
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