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
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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