An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib
| Autor: | Pınar Haznedar, F. Tuba Eminoglu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Glycosylation protein losing enteropathy Congenital defects of glycosylation Hepatosplenomegaly Disease Hypoglycemia medicine.disease_cause Gastroenterology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine 030225 pediatrics Internal medicine medicine Hyperinsulinemic hypoglycemia business.industry medicine.disease Case Report / Olgu Sunumu Hypotonia 030104 developmental biology chemistry Pediatrics Perinatology and Child Health Failure to thrive hyperinsulinemic hypoglycemia medicine.symptom Differential diagnosis business D-mannose |
| Zdroj: | Turkish Archives of Pediatrics/Türk Pediatri Arşivi |
| ISSN: | 1308-6278 1306-0015 |
| Popis: | Congenital glycosylation defects are autosomal recessive disorders clinically characterized with growth retardation, hypotonia and multisystemic involvement. Congenital glycosylation defect type Ib is due to deficiency in phosphomannose isomerase which converts fructose-6-phosphate into mannose-6-phosphate. Patients usually present with hepatic or gastrointestinal symptoms lacking cranial involvement, making their IQ completely normal. We report a 10-month-old female patient referred to our clinic with persistent hypoglycemia, failure to thrive and hepatosplenomegaly who was diagnosed with congenital glycosylation defect type Ib. Oral D-mannose therapy was initiated shortly after diagnosis and her symptoms resolved in two weeks. Congenital glycosylation defect type Ib is an easily treatable disease and should be kept in mind in differential diagnosis in children and adults who show gastrointestinal symptoms, hyperinsulinemic hypoglycemia, palpable liver and spleen, growth retardation and elevated liver function tests. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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