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

Ahmed A, Lowden MR - J Clin Med Res (2009)

Bottom Line: Myoadenylate deaminase deficiency is noted in skeletal muscles.It generally presents with exertional myalgias, fatigue and weakness.Myoadenylate deaminase deficiency; Myalgia; Pain.

View Article: PubMed Central - PubMed

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

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Adenosine monophosphate deaminase stain of muscle showing normal control (a) and markedly diminished myoadenylate deaminase activity (b). x 400.
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Figure 2: Adenosine monophosphate deaminase stain of muscle showing normal control (a) and markedly diminished myoadenylate deaminase activity (b). x 400.

Mentions: A muscle biopsy of the left vastus lateralis was performed in light of persistent symptomatology. It showed mild morphologic abnormalities consistent with variation in myofiber size and shape (Fig. 1). Myofiber glycogen content and staining for phosphorylase, phosphofructokinase, and acid phosphatase were unrevealing. Staining for myoadenylate deaminase activity was markedly diminished (Fig. 2). Biochemical analyses for acid maltase, fatty acid transport (carnitine, carnitine palmitoyltransferase) and mitochondrial enzymes including respiratory chain enzymes were unremarkable.


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

Ahmed A, Lowden MR - J Clin Med Res (2009)

Adenosine monophosphate deaminase stain of muscle showing normal control (a) and markedly diminished myoadenylate deaminase activity (b). x 400.
© Copyright Policy - open access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3318872&req=5

Figure 2: Adenosine monophosphate deaminase stain of muscle showing normal control (a) and markedly diminished myoadenylate deaminase activity (b). x 400.
Mentions: A muscle biopsy of the left vastus lateralis was performed in light of persistent symptomatology. It showed mild morphologic abnormalities consistent with variation in myofiber size and shape (Fig. 1). Myofiber glycogen content and staining for phosphorylase, phosphofructokinase, and acid phosphatase were unrevealing. Staining for myoadenylate deaminase activity was markedly diminished (Fig. 2). Biochemical analyses for acid maltase, fatty acid transport (carnitine, carnitine palmitoyltransferase) and mitochondrial enzymes including respiratory chain enzymes were unremarkable.

Bottom Line: Myoadenylate deaminase deficiency is noted in skeletal muscles.It generally presents with exertional myalgias, fatigue and weakness.Myoadenylate deaminase deficiency; Myalgia; Pain.

View Article: PubMed Central - PubMed

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

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus