Background: Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings. Hypoglycemia may cause sensorineural hearing loss and nocturnal feeding is a risk factor for the development of gastroesophageal reflux that may cause chronic otitis media and hearing loss consequently. We aimed to determine the prevalence and characteristics of hearing loss in hepatic glycogen storage diseases.
Methods: A total of 24 patients with hepatic glycogen storage disease (15 glycogen storage disease type I and 9 non type I) and 24 age/sex matched healthy controls were enrolled in the study. Pure tone audiometer, immitansmetry, acoustic reflex measurement, otoacoustic emission test (OAE) and auditory brainstem response (ABR) tests were applied to all participants.
Results: Hearing loss was determined in 17/24 patients (12 glycogen storage disease type I and 5 non type I) with pure tone audiometer. Interpretation of all the findings revealed a total of 8 patients had conductive and 9 had mixed hearing loss. All parameters were significantly different than the control group.
Conclusions: This is the first study to comprehensively assess the auditory functions of patients with hepatic glycogen storage disease. Audiological findings determined a significantly increased prevalence of conductive/ mixed type hearing loss in the patient group which is a new finding in the literature. Further studies with extended patient numbers are required to enlighten the underlying pathophysiology.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.24953/turkjped.2022.142 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Current approaches in CRISPR-Cas system for metabolic disorder.
Prog Mol Biol Transl Sci
January 2025
School of Health Sciences & Technology, UPES, Dehradun, Uttarakhand, India. Electronic address:
A new era in genomic medicine has been brought by the development of CRISPR-Cas technology, which presents hitherto unheard-of possibilities for the treatment of metabolic illnesses. The treatment approaches used in CRISPR/Cas9-mediated gene therapy, emphasize distribution techniques such as viral vectors and their use in preclinical models of metabolic diseases like hypercholesterolemia, glycogen storage diseases, and phenylketonuria. The relevance of high-throughput CRISPR screens for target identification in discovering new genes and pathways associated with metabolic dysfunctions is an important aspect of the discovery of new approaches.
View Article and Find Full Text PDFStarch phosphorylation - A new perspective: A review.
Int J Biol Macromol
January 2025
Biopolymer Analytics, Institute of Biochemistry and Biology, University of Potsdam, Karl-Liebknecht-Str. 24-25, Building 20, Potsdam, Golm, Germany. Electronic address:
The phosphorylation of the storage carbohydrates, starch and glycogen, is a process that is fundamental to their physicochemical properties and their turnover. Therefore, the interest utilising phosphorylation as a biotechnological tool to customize polysaccharides has risen permanently. Today, the phosphoesterification of both carbohydrate forms is much better understood.
View Article and Find Full Text PDFExpanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.
Ann Transl Med
December 2024
Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFReporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).
Ann Indian Acad Neurol
November 2024
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!