Inborn Errors of Purine Nucleotide Metabolism That Affect Muscle (AMP Deaminase Deficiency)

Aynur KÜÇÜKÇONGAR YAVAŞa

aAnkara Bilkent City Hospital, Clinic of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
Adenosine monophosphate deaminase is part of the purine nucleotide cycle which converts adenosine monophosphate to inosine monophosphate and caused ammonia secretion. Three isozymes described as muscle, liver, erythrocyte forms. Muscle adenosine monophosphate deaminase deficiency is common. Primary (genetic) deficiency is one of the most common inherited metabolic defects, transmitted as an autosomal recessive trait. The enzyme encoded in the AMPD1 gene. Homozygous mutations in this gene cause enzyme deficieny. Secondary (acquired) deficiency can be seen in the some neuromuscular disorders. Many subjects are asymptomatic, others suffer from fatigue, cramps, myalgia. The onset of the symptoms is noted in late childhood or adulthood. Other rare manifestations include myoglobinuria, elevated creatine kinase. Rhabdomyolysis, myoglobinuria can be triggered by acute viral infections generally. Ischemic test shows absent of elevation venous plasma ammonia. Final diagnosis is established by mutation analysis, histochemical or biochemical assay. Sypmtoms can be decreased with usage of D-ribose and xylitol.
Keywords: Muscle adenosine deaminase deficiency; purine matabolism; metabolic myopathy

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