ArticleTurk pediatri arsivi2020
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.
Article in Turk pediatri arsivi, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.Frontiers in pediatrics · 2023Review
Corrections and comments
- Erratum issuedErratum.2021
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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