Overview
The Biochemical Genetics Section of the Human Genetics Division at Children's Hospital Medical Center of Cincinnati provides interactive, coordinated subspecialty/primary clinical and laboratory care programs for children and adults with metabolic or biochemical diseases.
Who Should be Referred?
- Patients with abnormal newborn screening tests
- Children and adults with clinical symptoms suggesting a disorder of metabolism
- Children and adults with suspected lysosomal storage diseases
- Families with a history of metabolic disease
Special Chemistry Laboratory
- Urine Metabolic Screen
- Quantitative amino acid analysis on urine, serum, or CSF
- Mucopolysaccharides -- quantitation and electrophoretic characterization
- Galactose-1-phosphate
Organic Acids Laboratory
- GC/MS screening
- Quantitative analysis
Treatment Programs Available
Comprehensive medical and nutritional management is available for children and adults with PKU, other amino acid disorders, organic acid disorders, inborn errors of carbohydrate metabolism, fatty acid oxidation disorders.
Medical and nutritional care for pregnant women with PKU is coordinated with the primary obstetrician and/or perinatologist. Other treatment programs include specific enzyme therapy for Gaucher disease, as well as medical management for lysosomal storage diseases.
Genetic counseling is available for preconceptional and prenatal counseling for families at risk for various biochemical genetic conditions.
Staff
Metabolic Diseases Clinic physicians are board-certified by the American Board of Medical Specialties in Clinical Genetics with subspecialty certification in Clinical Biochemical Genetics and/or Clinical Molecular Genetics.
