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Serum Protein Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
Case ID:
TAB-3624
Web Published:
12/6/2022
Description:
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have discovered biomarkers previously described cytokines that has never been associated with MMA or propionic acidemia (PA) such as FGF-21 (fibroblast like-growth factor - 21). The cytokines have been studied in patients with mitochondrial myopathies and other unrelated metabolic disorders, but never MMA. These cytokines have also been associated with mitochondrial dysfunction but never studied in MMA or PA. These new biomarkers could be used to measure the effects of any intervention on hepatic MUT or PCC activity and the effects of hepatic MUT or propionyl-Co A carboxylase (PCC) deficiency, and the secondary mitochondropathy associated with MUT and PCC deficiency.
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Direct Link:
https://nih.technologypublisher.com/tech/Serum_Protein_Biomarkers_that_Predic t_the_Response_to_Liver_Directed_Therapy_in_Methymalonic_Acidemia_(MMA)_and_ Propionic_Acidemia_(PA)
Category(s):
Diagnostics
Ophthalmology
Research Materials
Cardiology
Oncology
Dental
Endocrinology
Therapeutics
Infectious Disease
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For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Eirini (Irini) Manoli
Charles Venditti
Keywords:
Acidemia
Biomarkers
Directed
liver
Methymalonic
MMA
PREDICT
Protein
RESPONSE
SERUM
That
THERAPY
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WBXXXX
WIXXXX
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