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Case Reports
. 2024 Sep 30;24(1):620.
doi: 10.1186/s12887-024-05074-6.

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

Paula Sánchez-Pintos  1   2   3   4   5 , Maria José Camba-Garea  6   7   8 , Beatriz Martin López-Pardo  6   7   8 , Jose A Cocho de Juan  6   7   8 , M Dolores Bóveda  6   7   8 , Sofia Barbosa-Gouveia  6   7   8 , Maria E Vázquez-Mosquera  6   7   8 , Francisco Barros-Angueira  7   9   10 , Raquel Fernández Patiño  6 , Maria L Couce  6   7   9   8   11
Affiliations
Case Reports

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

Paula Sánchez-Pintos et al. BMC Pediatr. .

Abstract

Background: 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.

Case presentation: Two male monochorionic diamniotic twins were detected through newborn screening by galactosuria and increased total blood galactose. They started galactose dietary restriction with biochemical normalization. After exclusion of the three previously described types of galactosemia, a progressively galactose reintroduction was initiated. The clinical follow-up developed include neurological assessment and intelligence quotient, annual ophthalmological evaluation and biannual abdominal ultrasound; whereas the biochemical assessment comprises quarterly determinations of galactose 1-phosphate and galactosuria and annual determination of liver and renal function, 25-OH-vitamin D and calcium levels. Sanger sequencing of GALM gene was complemented by the study of gene dose using SNPs array and a protein modeling to study the conformational changes induced in GALM protein. In both siblings a novel and complete deletion of exon 4 in GALM gene was detected. Both remained asymptomatic, with normal growth and intellectual development, despite dietary liberalization. Evolutionarily, the biochemical profile in blood remained normal with intermittent galactosuria.

Conclusions: 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.

Keywords: GALM deficiency; Galactose mutarotase deficiency; Type IV galactosemia.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Deletions of GALM gene in both siblings and their parents compared with normal controls. To facilitate the understanding of the image, the extension of the deletion is outlined in red
See this image and copyright information in PMC

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