Adenosine monophosphate deaminase deficiency type 1
A genetic disorder affecting muscle metabolism
Adenosine monophosphate deaminase deficiency type 1 (AMPD1 deficiency) is a genetic disorder that affects the metabolism of muscle cells. It is characterized by a deficiency in the enzyme adenosine monophosphate deaminase (AMPD), which plays a crucial role in the purine nucleotide cycle.
Pathophysiology[edit | edit source]
AMPD1 deficiency is caused by mutations in the AMPD1 gene, which encodes the enzyme adenosine monophosphate deaminase. This enzyme is responsible for converting adenosine monophosphate (AMP) to inosine monophosphate (IMP) in the purine nucleotide cycle. The deficiency leads to an accumulation of AMP and a decrease in IMP, affecting the energy metabolism in muscle cells.
Clinical presentation[edit | edit source]
Individuals with AMPD1 deficiency may experience symptoms such as muscle weakness, fatigue, and exercise intolerance. These symptoms are often exacerbated by physical activity and can vary in severity among affected individuals. Some individuals may remain asymptomatic.
Diagnosis[edit | edit source]
Diagnosis of AMPD1 deficiency is typically made through a combination of clinical evaluation, muscle biopsy, and genetic testing. Muscle biopsy may show reduced AMPD activity, while genetic testing can identify mutations in the AMPD1 gene.
Management[edit | edit source]
There is currently no cure for AMPD1 deficiency. Management focuses on symptom relief and may include lifestyle modifications such as avoiding strenuous exercise. Some patients may benefit from nutritional supplements, although their efficacy is variable.
Genetics[edit | edit source]
AMPD1 deficiency is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutated gene, typically do not show symptoms.
Related pages[edit | edit source]
Gallery[edit | edit source]
Structure of adenosine monophosphate (AMP)
Structure of AMP
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