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

ABSTRACT: 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.

SUBMITTER: Ficicioglu C 

PROVIDER: S-EPMC8100398 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature