Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT ‐ CDG : Expanding the Clinical Spectrum With a Novel Pathogenic Variant

Esra Deniz Papatya Çakır

doi:10.1111/cge.70119

December 3, 2025Clinical Genetics

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT ‐ CDG : Expanding the Clinical Spectrum With a Novel Pathogenic Variant

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Key Points

Complex diagnosis of Gaucher Disease Type 1 and B4GALT1-CDG demonstrates challenges in dual rare diseases,
Case highlights the need for genetic testing to identify novel pathogenic variants in metabolic disorders.
This report underscores the expanded clinical spectrum associated with ultra-rare B4GALT1-CDG and associated diagnoses.
Significance of genetic testing is emphasized for complex dual rare disease cases; clinical implications are considerable.

Implication

Case report reveals novel pathogenic variants in B4GALT1-CDG, implying genetic testing is essential for diagnosing dual rare diseases.

Abstract

This case highlights the complexity of diagnosing dual rare metabolic diseases and the importance of genetic testing in uncovering novel pathogenic variants. It has also contributed to expanding the clinical manifestation spectrum of B4GALT1-CDG, which is an ultra-rare disorder.

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Cite This Study

Esra Deniz Papatya Çakır (2025) studied this question.

synapsesocial.com/papers/69337cfbb3f947a0a125a659 https://doi.org/10.1111/cge.70119

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Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT ‐ CDG : Expanding the Clinical Spectrum With a Novel Pathogenic Variant

Key Points

Implication

Abstract

Discussion

Cite This Study

Rare in Rare: Overlapping Clinical Features in a Patient With Both Gaucher Disease Type 1 and B4GALT ‐ CDG : Expanding the Clinical Spectrum With a Novel Pathogenic Variant

Key Points

Implication

Abstract

Discussion

Cite This Study

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