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Services and Programs
Pediatric Genetics
Treatment Centers
Inherited Metabolic Disease Specialty Center
We sreve as a designated follow-up treatment center for the New York State Newborn Screening Program. Within 48 hours of birth, babies are tested for phenylketonuria (PKU), galactosemia, cystic fibrosis, and MCADD, among other diseases, to ensure timely referral and treatment. Babies who test positive for these disorders are referred to our center.
Each child receives a comprehensive evaluation for his or her medical needs. A social history, physical examination, and appropriate diagnostic studies are performed. We provide reports on our clinical evaluations and recommendations for treatment and follow-up to the child's physician. We perform periodic cognitive and developmental evaluations on children referred from the Newborn Screening Program. We have support services in place to identify resources for patients and families, and we provide education about the disorder and training about self-care for patients and families.
Lysosomal Enzyme Infusion Therapy
We provide enzyme replacement therapy for specific iysosomal storage diseases, including Fabry's disease and mucopolysaccharidosis 1 (MPS1).