In Brief: For the first time, clinicians successfully treat an unborn child with Pompe disease, a rare autosomal recessive metabolic disorder
an unborn child with Pompe disease, a rare autosomal recessive metabolic disorder.
The disease is caused by deficiency of the lysosomal acid α-glucosidase enzyme, which leads to glycogen aggregates in tissues and is especially damaging to cardiac and skeletal muscle. Although newborn screening allows ERT with recombinant α-glucosidase to start soon after birth, which improves outcomes, in the severe infantile onset form of the disease, the damage begins in utero.
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