Claudio with his mom, Sonia Costa. Claudio participated in a clinical trial of the first-ever drug treatment for a Maroteux-Lamy syndrome. Kids with Maroteux-Lamy syndrome, or mucopolysaccharidosis (MPS) VI, lack an enzyme that is required for the breakdown of a complex sugar (glycosaminoglycan) into simpler molecules. Without the enzyme, this sugar remains in the cells, accumulates in the
tissues and causes severe damage. Because this sugar is normally found in connective tissue, the disease affects the skeleton, the heart valves, the spleen, the liver and the cornea, to name a few. Kids born with this genetic disorder have short stature, joint stiffness, respiratory problems, cardiac insufficiency, and vision and hearing loss. The physical and emotional challenges they face are enormous.
Medical Genetics
The Division of Medical Genetics provides consultation services for children from birth to 18 years. Working in collaboration with the Craniofacial Center, the Department of Behavioral and Developmental Pediatrics and the research institute, clinicians evaluate children who are at risk for or have evidence of genetic disorders.
Adults with some types of genetic conditions may also be evaluated.
Referrals
Please call (510) 428-3550 for referral information.
Hours
Wednesdays, 9 a.m. - 3 p.m.
Contact us
Phone: (510) 428-3550
Fax: (510) 450-5874
Where to find us
Medical Genetics Clinic
5275 Claremont Ave., Oakland CA 94609 — Map/Directions
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