CMyoadenylate deaminase deficiency (AMPD1)
Individual decision
Myoadenylate deaminase deficiency (AMPD1)
Individual decision
Myoadenylate deaminase deficiency (AMPD1) is a rare inherited metabolic disorder with poor exercise tolerance (pain, cramping, early fatigue). A small study by Wagner, Gresser and Zöllner (1991) in a few patients noted that oral D-ribose reduced exertional muscle symptoms. These are the only direct human data, the sample is tiny, and there are no controlled RCTs. A metabolic specialist decides on a trial individually, keeping in mind that the evidence base is minimal.
ICD-10: E79.8 · ICD-11: 5C55.0Y