PP246-MON: Galactose Oxidation Using C in Healthy and Galactosemic Children

Campanholi, Diana Ruffato Resende; Camelo, José Simon

doi:10.1016/s0261-5614(14)50580-8

Cited by 1 publication

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“…Previous studies showed that the non-invasive 13 C galactose breath test reflects individual galactose oxidation capacity and was able to differentiate between galactosemia patients and controls, [14][15][16] and even between GALT gene variations, such as the Duarte-variant (with erythrocyte GALT activity >15%) and p.Ser135Leu genotypes (with residual GALT activity in tissues other than erythrocytes). 15 Although an association between galactose oxidation capacity and verbal dyspraxia has been found in CG patients, 17 the association between residual galactose oxidation capacity and other clinical outcome measures, such as intellectual outcome and MDs have not been studied yet.…”

Section: Introductionmentioning

confidence: 99%

The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Welsink‐Karssies

Harskamp

Ferdinandusse

et al. 2020

J of Inher Metab Disea

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Classical galactosemia (CG) patients frequently develop long-term complications despite early dietary treatment. The highly variable clinical outcome is poorly understood and a lack of prognostic biomarkers hampers individual prognostication and treatment. The aim of this study was to investigate the association between residual galactose oxidation capacity and clinical and biochemical outcomes in CG patients with varying geno-and phenotypes. The noninvasive 1-13 C galactose breath test was used to assess whole body galactose oxidation capacity.Participants received a 7 mg/kg oral dose of 1-13 C labelled galactose. The galactose oxidation capacity was determined by calculating the cumulative percentage dose of the administered galactose (CUMPCD) recovered as 13 CO 2 in exhaled air.Abbreviations: CG, classical galactosemia; CUMPCD, cumulative percentage of the administered dose recovered; Gal-1-P, galactose-1-phosphate; GALT, galactose-1-phosphate uridyltransferase; IQ, intelligence quotient; MD, movement disorder.

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Section: Introductionmentioning

confidence: 99%

The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

Welsink‐Karssies

Harskamp

Ferdinandusse

et al. 2020

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

PP246-MON: Galactose Oxidation Using C in Healthy and Galactosemic Children

Cited by 1 publication

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The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

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PP246-MON: Galactose Oxidation Using C in Healthy and Galactosemic Children

Cited by 1 publication

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The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

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The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

The 1‐¹³C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes