The Biochemical Genetic Clinic for the treatment of patients with inherited disorders of metabolism at UAB is composed of a multidisciplinary team of health professionals headed by Dr. S. Lane Rutledge, MD and Dr. Maria Descartes, MD to provide diagnosis, treatment, and support services to children and adults, and their families, with inherited disorders of metabolism. Inherited disorders of metabolism are a group of very rare genetic disorders of the body's biochemistry. Both physicians are Board Certified in Genetics and Medical Biochemical Genetics by the American Board of Medical Genetics.
The clinic was founded in 1968. It is the only clinic in Alabama that specializes in the care of individuals with these disorders. The clinic is a major component of the newborn screening network through the Alabama Department of Public Health. Clinic professionals also train medical doctors, nurses, and dietitians to work with patients with these disorders. The team is also available to answer questions of other health professionals or concerned caregivers.
Biochemical Genetics Staff:
Clinic staff will work with private pediatricians, primary care physicians/obstetricians to provide comprehensive medical care. The primary functions of the team include: prompt diagnosis and treatment for the disorder, emergency care as indicated, and help with comprehensive support services. The clinic team will also assist with WIC, Medicaid, and home health care and insurance registration and processing. Other Civitan-Sparks clinic disciplines are available for additional consultation including psychologists, occupational, physical, speech language therapists, and medical social workers. Laboratory testing and emergency care is provided through the Children's Hospital of Alabama or the University of Alabama at Birmingham. The team will refer families to the appropriate support website or newsletter for their specific metabolic disorder. Periodic support activities are sponsored by parent volunteers and the metabolic staff.
There are many rare genetic inherited disorders of metabolism. Each one has a distinct cause and specific treatment methods. Many of these disorders are life long and primarily treated with a modified diet and sometimes medications. Most of them are caused by a single genetic defect that leads to a missing or defective enzyme or transport protein carrier. Some inherited disorders of metabolism are detected by newborn screening at birth; some by a medical crisis most often occurring in childhood. Early detection of these disorders results in less mental and physical disability.
The four most common inherited disorders of metabolism in Alabama are Phenylketonuria (PKU), Hyperphenylalanemia (milder variant of PKU), Galactosemia, and Medium Chain Fatty Acid Oxidation Disorder (MCADD).
Below lists general information about these disorders:
Hyperphenylalanemia (milder variant of PKU)
Medium Chain Fatty Acid Oxidation Disorder (MCADD)
Prompt identification and treatment of all inherited disorders of metabolism require the special care of skilled metabolic physician and team. The team at Civitan-Sparks Clinics is ready to assist in every capacity.
Other resources and information about newborn screening for inherited disorders of metabolism: