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Article

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Feb 2026

Sayar Esra, Gökçe Altaş Gizem, Sezer Abdullah, Kolkıran Abdulkerim, Ucan Berna, Olgac Asburce

Abstract excerpt

OBJECTIVES: Galactosemia is a congenital disorder of carbohydrate metabolism, in which the body is unable to metabolize galactose properly. Coffin-Lowry syndrome (CLS) is characterized by intellectual disability, developmental delay, dysmorphic features, growth retardation, vision and hearing loss, and skeletal changes, which is an X-linked disorder, with males being more severely affected, whereas the clinical...

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Identifiers

PMID: 41077643
DOI: 10.1515/jpem-2025-0159

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RPS6KA3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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