[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis

Can Ficicioglu, Didem Demirbas, Britt Derks, G Shashidhar Pai, David J Timson, Maria Estela Rubio-Gozalbo, Gerard T Berry*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose-1-phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under investigation. We describe a 6-year-old female who was diagnosed with galactokinase deficiency due to cataract formation when she was 10 months of age and initially started on galactose-restricted diet at that time for 5 months. She developed gait abnormality at 4 years of age. Breath tests via measurement of 13C isotope in exhaled carbon dioxide following 13C-labeled galactose administration at carbon-1 and carbon-2 positions revealed oxidation rates within the normal range. The results in this patient strikingly contrast with the results of another patient with GALK1 deficiency that underwent breath testing with [1-14C]-galactose and [2-14C]-galactose. Extension of in vivo breath tests to other galactokinase patients is needed to better understand the pathophysiology of this disease.

Original languageEnglish
Pages (from-to)104-109
Number of pages6
JournalJIMD reports
Issue number1
Publication statusPublished - May 2021


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