Chronic non-exertional myalgia and myoadenylate deaminase deficiency: a possible association.

J Clin Med Res

Penn State College of Medicine, Hershey Medical Center, Department of Neurology - EC037, 30 Hope Drive, Hershey, PA 17033, USA.

Published: April 2009

Unlabelled: Myoadenylate deaminase deficiency is noted in skeletal muscles. It generally presents with exertional myalgias, fatigue and weakness. We present a patient who complained of constant pain unrelated to activity with biopsy finding consistent of myoadenylate deaminase deficiency.

Keywords: Myoadenylate deaminase deficiency; Myalgia; Pain.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3318872PMC
http://dx.doi.org/10.4021/jocmr2009.04.1231DOI Listing

Publication Analysis

Top Keywords

myoadenylate deaminase
16
deaminase deficiency
12
chronic non-exertional
4
non-exertional myalgia
4
myoadenylate
4
myalgia myoadenylate
4
deaminase
4
deficiency association
4
association unlabelled
4
unlabelled myoadenylate
4

Similar Publications

Pediatric intensive care patients are particularly susceptible to severe bacterial infections because of ineffective neutrophil responses. The reasons why neutrophils of newborns are less responsive than those of adults are not clear. Because adenosine triphosphate (ATP) and adenosine (ADO) tightly regulate neutrophils, we studied whether the ATP and ADO levels in the blood of newborn mice could impair the function of their neutrophils.

View Article and Find Full Text PDF

Rheumatoid Arthritis (RA) is a chronic and progressive autoimmune disease that affects synovial tissues has greater risk of developing secondary osteoporosis (OP). In particular, polymorphisms in Adenosine Monophosphate Deaminase 1 (AMPD1) and Methylenetetrahydrofolate Reductase (MTHFR) affect the outcome of methotrexate (MTX) treatment in patients with RA. Therefore, this study aimed to determine the association of AMPD1 rs17602729, MTHFR C677T, and MTHFR A1298C polymorphisms with MTX activity in RA patients.

View Article and Find Full Text PDF

Z-Nucleic Acid Sensing and Activation of ZBP1 in Cellular Physiology and Disease Pathogenesis.

Immunol Rev

January 2025

Department of Biochemistry, Division of Biological Sciences, Indian Institute of Science, Bengaluru, Karnataka, India.

Z-nucleic acid binding protein 1 (ZBP1) is an innate immune sensor recognizing nucleic acids in Z-conformation. Upon Z-nucleic acid sensing, ZBP1 triggers innate immune activation, inflammation, and programmed cell death during viral infections, mice development, and inflammation-associated diseases. The Zα domains of ZBP1 sense Z-nucleic acids and promote RIP-homotypic interaction motif (RHIM)-dependent signaling complex assembly to mount cell death and inflammation.

View Article and Find Full Text PDF

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.

View Article and Find Full Text PDF

Background: The HOXB13/IL17RB gene expression biomarker has been shown to predict response to adjuvant and extended endocrine therapy in patients with early-stage ER+ HER2- breast tumors. HOXB13 gene expression is the primary determinant driving the prognostic and endocrine treatment-predictive performance of the biomarker. Currently, there is limited data on HOXB13 expression in HER2+ and ER- breast cancers.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!