Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization from 18 months of age, after two periods of galactose-free diet. It represents...

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Bibliographic Details
Published in:BMC Pediatrics 2024, Vol.24 (1)
Main Authors: Sánchez-Pintos, Paula, Camba-Garea, Maria José, López-Pardo, Beatriz Martin, de Juan, Jose A. Cocho, Bóveda, M. Dolores, Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria E, Barros-Angueira, Francisco, Patiéo, Raquel Fernández, Couce, Maria L
Format: Report
Language:English
Subjects:
Analysis
Care and treatment
Diagnosis
DNA sequencing
Galactosemia
Genetic aspects
Health aspects
Infants (Newborn)
Nucleotide sequencing
Single nucleotide polymorphisms
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Summary:The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary liberalization from 18 months of age, after two periods of galactose-free diet. It represents the second report in Europe of GALM deficiency. The absence of clinical involvement after 7 years of dietary liberalization is interesting to expand the knowledge about the recommended dietary management in this pathology.
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-024-05074-6