Pompe disease (acid maltase deficiency, or GAA deficiency) shares symptoms with several other disorders and, in the absence of specific testing, can sometimes be confused with these other conditions.
The biopharmaceutical company Genzyme, in conjunction with MDA, is offering free first-step testing for Pompe disease. Genzyme is the maker of the Pompe enzyme replacement therapies Myozyme and Lumizyme. (Also see Sizing Up Early Enzyme Replacement for Pompe Disease.)
The test, which can be ordered by any MDA clinic physician who suspects a patient may have Pompe disease, measures levels of the GAA enzyme in blood. If levels are low, confirmatory testing using DNA analysis will be recommended.
In young children, Pompe can resemble such disorders as spinal muscular atrophy, congenital muscular dystrophy and mitochondrial myopathy.
In older children and adults, Pompe can resemble disorders like limb-girdle muscular dystrophy, Becker muscular dystrophy, Duchenne muscular dystrophy, polymyositis, mitochondrial myopathy, SMA, spinal-bulbar muscular atrophy (Kennedy disease) and amyotrophic lateral sclerosis.
In addition, Genzyme’s Pompe Community— a website for families affected by Pompe disease and professionals involved in Pompe research or care — contains information about confirmatory DNA testing for Pompe disease and about the Pompe Registry, a patient registry that requires the participation of a physician. (Also see Pompe Disease Registry on ClinicalTrials.gov.)