13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:59 |
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| Enthalten in: |
JIMD reports - 59(2021), 1 vom: 11. Mai, Seite 104-109 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ficicioglu, Can [VerfasserIn] |
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| Links: |
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| Themen: |
GALK1 deficiency |
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| Anmerkungen: |
Date Revised 02.04.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1002/jmd2.12205 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM325285527 |
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| 520 | |a © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a galactosemia | |
| 650 | 4 | |a in vivo galactose oxidation | |
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| 700 | 1 | |a Pai, G Shashidhar |e verfasserin |4 aut | |
| 700 | 1 | |a Timson, David J |e verfasserin |4 aut | |
| 700 | 1 | |a Rubio-Gozalbo, Maria Estela |e verfasserin |4 aut | |
| 700 | 1 | |a Berry, Gerard T |e verfasserin |4 aut | |
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