Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias

Journal of Inherited Metabolic Disease
F MolemaMonique Williams

Abstract

There is increasing evidence that long-term complications in organic acidemias are caused by impaired mitochondrial metabolism. Currently, there is no specific biomarker to monitor mitochondrial dysfunction in organic acidemias. Serum fibroblast growth factor 21 (FGF-21) is a biomarker for mitochondrial disease and could be a candidate to monitor mitochondrial function in the deleterious course of disease. Data of 17 patients with classical organic acidemias (11 propionic acidemia (PA), four methylmalonic acidemia (MMA) and two isovaleric acidemia (IVA) patients) were included. The clinical course was evaluated; metabolic decompensations and long-term complications were correlated with plasma FGF-21 levels. Cardiomyopathy, prolonged QT interval, renal failure, and optic neuropathy were defined as long-term complications. Patients ages ranged from 16 months up to 32 years. Serious long-term complications occurred in eight patients (five PA and three MMA patients). In MMA and PA patients plasma FGF-21 levels during stable metabolic periods were significantly higher in patients with long-term complications (Mdn = 2556.0 pg/ml) compared to patients without (Mdn = 287.0 pg/ml). A median plasma FGF-21 level above 1500 pg/ml during a ...Continue Reading

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Citations

May 16, 2020·Journal of Inherited Metabolic Disease·Bianca DimitrovStefan Kölker
Oct 1, 2020·Journal of Inherited Metabolic Disease·Femke MolemaUNKNOWN additional individual contributors of MetabERN
Jan 1, 2021·Critical Reviews in Clinical Laboratory Sciences·Yasaman Badakhshi, Tianru Jin
Feb 18, 2021·Journal of Inherited Metabolic Disease·Patrick FornyMatthias R Baumgartner
Apr 7, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Irini ManoliCharles P Venditti
May 20, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Oleg A ShchelochkovCharles P Venditti
Jan 18, 2022·Journal of Inherited Metabolic Disease·Nicola LongoJerry Vockley

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Methods Mentioned

BETA
biopsy
biopsies
fluorescence reduction
ELISA

Software Mentioned

SPSS data manager

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