Glycogen storage disorder Type IXa and congenital hypothyroidism: A novel association
| Autor: | Subramanian Kannan, Spoorthi Nargund, Somashekara Hosaagrahara Ramakrishna |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Glycogen Storage Disease Type IX
endocrine system congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty endocrine system diseases Glycogen business.industry Glycogen metabolism nutritional and metabolic diseases Abdominal distension medicine.disease Congenital hypothyroidism chemistry.chemical_compound Endocrinology chemistry Internal medicine Thyroid autoimmunity medicine Glycogen storage disease In patient medicine.symptom business |
| Zdroj: | Indian Journal of Child Health. 7:459-461 |
| ISSN: | 2349-6126 2349-6118 |
| Popis: | Glycogen storage disease (GSD) is a disorder of glycogen metabolism and GSDs are classified according to the enzyme deficiency and the affected tissue. Previously, an association of thyroid autoimmunity and hypothyroidism in patients with GSD has been reported. Here, we are presenting a rare association of congenital hypothyroidism with GSD IXa in a child who presented with progressive abdominal distension and hepatomegaly. GSD was suspected clinically and was confirmed by whole-exome sequencing |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|