A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction.

Meredith Fuchs, Laura Keehan, Tyler Ky, Gregory M Enns, Tina M Cowan

Abstract readCase Reports

In one paragraph

Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

What it found

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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.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Meredith FuchsEmory University School of Medicine, Atlanta, GA, USA.

Laura KeehanDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Tyler KyDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Gregory M EnnsDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Tina M CowanDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen storage disease type Ib (GSDIb) is an inherited disorder of carbohydrate metabolism that commonly presents in infancy. Here, we describe a case of GSDIb who presented on the first day of life with severe hypoglycemia and lactic acidosis, prompting a broad differential diagnosis. Additional testing revealed hyperlipidemia, relatively low ketones, and elevations of TCA-cycle intermediates in urine suggestive of primary or secondary mitochondrial dysfunction. The diagnosis of GSDIb was established by genome sequencing showing homozygous likely pathogenic variants in

Identifiers

PMID42835824

DOI10.1016/j.ymgmr.2026.101364

PMCPMC13635859

What OpenQuestion holds

Textmetadata

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.