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A muscle biopsy performed elsewhere showed nonspecific findings. Stains for muscle glycogen, lipid, and ultrastructural examination of muscle tissue were not performed.

The above studies illustrate several points. Patient 1 represents the classic infantile presentation of Pompe disease. Patient 2 illustrates the insidious progression of pelvic girdle weakness, typical of the late-onset presentation of Pompe disease, which characteristically occurs in early to mid adulthood. The caveat against always attributing elevations of ALT and AST to liver disease is illustrated by this case. These enzymes are also present in muscle, and testing with both a liver-specific enzyme such as gamma glutamyl transferase (GGT) and the muscle-specific enzyme CK is stressed. Patient 3 illustrates the early onset of respiratory insufficiency that is typical in patients with late-onset Pompe disease.

Characteristic Symptoms

Pompe disease is a rare and often unrecognized disease. Advances in diagnosis and therapy of Pompe disease demand a greater awareness of this disease. The pathophysiology of disease in all patients a deficiency of lysosomal acid alpha-glucosidase (GAA). GAA is essential for the degradation of lysosomal glycogen. Deficiency in this enzyme causes accumulation and distension of lysosomes with myofibrillary replacement and eventual lysosomal rupture and muscle destruction.[1] This autosomal-recessive disorder has been associated with more than 200 mutations of the GAA gene located on chromosome 17q. Unlike other glycogen storage diseases that result in increased cytosolic glycogen, Pompe disease results in lysosomal accumulation of glycogen. Additional mechanisms for cellular injury result from impaired activity in autophagic pathways, leading to excessive storage of glycogen in cardiac and skeletal muscle.[2]

Pompe disease is a clinical spectrum. As with many genetic disorders, the earlier the onset of symptoms the more severe the clinical phenotype. The amount of residual GAA correlates with the severity of the clinical presentation. The classic infantile onset is associated with minimal (< 1%) or no residual GAA activity: Later onset, less severe clinical phenotypes are associated with measurable GAA activity. However, one cannot predict the clinical phenotype by measuring enzyme activity in either muscle or fibroblast cultures. Similarly, the genotype-phenotype correlations have not been precisely defined.

The variation in age of onset, extent of organ involvement, and rate of disease progression has resulted in a complex and confusing classification of this disease. All patients with Pompe disease share the same basic problem: insidious accumulation of glycogen in target tissues - most prominently cardiac and skeletal muscle. Pompe disease is therefore best viewed as a disease spectrum of a unique pathogenesis and identical primary and downstream targets for potential therapies.

The overall incidence of Pompe disease is approximately 1 in 40,000.[3] The infantile-onset form affects less than 1 in 100,000 live births. Late-onset disease occurs in approximately 1 in 57,000 older children and adults. Pompe disease conforms to a classic autosomal-recessive pattern of inheritance. Because of the huge number of mutations affecting the GAA gene, virtually all patients represent compound heterozygotes (affected by 2 different mutations in sister alleles). Defects include missense and nonsense and splice site mutations and small and large deletions and insertions. Some mutations are more common in general populations or in certain ethnic groups, but many are private mutations identified in individual patients. There is an especially high incidence of specific nul mutations in Taiwanese and African American children that essentially "kill" the GAA gene.

The most devastating form of Pompe disease is the classic infantile-onset presentation illustrated by patient 1. These infants have profound and rapidly progressive muscle weakness manifest by paralytic hypotonia, severe head lag, and the phenotypic picture of a severely floppy baby (Figure 1). Motor development is invariably severely delayed. In more than 90% of patients, marked cardiomegaly is identified -- often by means of x-ray studies at the time of symptomatic presentation because of either cardiomyopathy or respiratory infection (Figure 2).

Figure 1: Hypotonia and head lag.
Figure 1. Hypotonia and head lag. Note nasogastric feeding tube.

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