In the early-onset form, an infant will present with poor feeding causing failure to thrive, or with difficulty breathing. The usual initial investigations include chest X ray, electrocardiogram and echocardiography. Typical findings are those of an enlarged heart with non specific conduction defects. Biochemical investigations include serum creatine kinase (typically increased 10 fold) with lesser elevations of the serum aldolase, aspartate transaminase, alanine transaminase and lactic dehydrogenase. Diagnosis is made by estimating the acid alpha glucosidase activity in either skin biopsy (fibroblasts), muscle biopsy (muscle cells) or in white blood cells. The choice of sample depends on the facilities available at the diagnostic laboratory. In the late-onset form, an adult will present with gradually progressive arm and leg weakness, with worsening respiratory function. Electromyography may be used initially to distinguish Pompe from other causes of limb weakness. The findings on biochemical tests are similar to those of the infantile form, with the caveat that the creatine kinase may be normal in some cases. The diagnosis is by estimation of the enzyme activity in a suitable sample. On May 17, 2013 the Secretary's Discretionary Advisory Committee on Heritable Diseases in Newborns and Children ( DACHDNC) approved a recommendation to the Secretary of Health and Human Services to add Pompe to the Recommended Uniform Screening Panel ( RUSP). The HHS secretary must first approve the recommendation before the disease is formally added to the panel. Classification There are exceptions, but levels of alpha-glucosidase determines the type of<unk> I an individual may have. More alpha glucosidase present in the individual's muscles means symptoms occur later in life and progress more slowly.<unk> I is broadly divided into two onset forms based on the age symptoms occur. Infantile-onset form is usually diagnosed at 4–8 months; muscles appear normal but are limp and weak preventing the child from lifting their head or rolling over. As the disease progresses, heart muscles thicken and progressively fail. Without treatment, death usually occurs due to heart failure and respiratory weakness. Late or later onset form occurs later than one to two years and progresses more slowly than Infantile-onset form. One of the first symptoms is a progressive decrease in muscle strength starting with the legs and moving to smaller muscles in the trunk and arms, such as the diaphragm and other muscles required for breathing. Respiratory failure is the most common cause of death. Enlargement of the heart muscles and rhythm disturbances are not significant features but do occur in some cases.
Glycogen storage disease type II
Limb–girdle muscular dystrophy
Glycogen storage disease type 0
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disease type VI
Glycogen storage disease type IX
Essential fructosuria