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Pediatric Genetic & Metabolic Conditions We Treat

We take specialized and evidence-based approaches to diagnosing children’s genetic and congenital disorders. When appropriate, we provide family-centered treatment for genetic conditions, and collaborate with other divisions at Lurie Children’s to provide comprehensive care for your child.

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Phenylketonuria (PKU)

An enzyme deficiency which prevents the metabolizing of one of the normal amino acids found in meat, bread, eggs, dairy, nuts and some fruits and vegetables.

Pompe Disease

A rare genetic disease of the heart and skeletal muscles caused by a lack alpha-glucosidase which results in the build-up of glycogen, disabling heart and skeletal muscles.