Myoadenylate deaminase deficiency (AMPD1)

ICD-10 E79.81 drug

Also known as: AMP deaminase deficiency (myoadenylate)

Drugs used for this condition

CD-riboseCase-by-case decision · Pentose monosaccharide; complemento alimenticio with a claimed role in energy metabolismMyoadenylate 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.

How to read tiers A–F

Evidence tiers belong to the drug-indication pair, not to the drug as a whole: the same substance can be A for one condition and F for another.

AStrong evidence – first or second line in international guidelines
BRecommended in selected cases
CStudy data contradict each other
DBenefit not proven, no documented harm
FDocumented harm, or risk without benefit