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[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. 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.

SUBMITTER: Ficicioglu C

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

REPOSITORIES: biostudies-literature

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

Ficicioglu Can C Demirbas Didem D Derks Britt B Pai G Shashidhar GS Timson David J DJ Rubio-Gozalbo Maria Estela ME Berry Gerard T GT

JIMD reports 20210203 1

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 ...[more]

PMID: 33977035

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

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

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

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

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