For more information please contact:
Dr.Carla Cuthbert, Ph.D.
Biochemical Lab Director
Tel: (305)-243-5450
E-mail: ccuthbert@med.miami.edu

Biochemistry Laboratory

“Inborn Errors of Metabolism” (IEMs) is the term that has been given to a growing group of genetic diseases estimated to have a collective incidence of about 1 in 3000 live births.

IEMs are largely caused by defects of single genes which are involved in metabolic processes. Alterations of these key genes can result in disturbances of various classes of metabolic compounds (eg amino acids, organic acids, carbohydrates, fatty acids, steroids) and can also lead to organellar dysfunction (mitochondrial, peroxisomal and lysosomal).

The specialty area that is involved in the diagnosis and follow-up of patients with IEMs is called Clinical Biochemical Genetics.  At the University of Miami, the UHealth Biochemical Genetics Laboratory performs clinical tests to evaluate enzymatic activity and detects key diagnostic markers which accumulate during the IEM disease process.

Analytic approaches in the Biochemical Genetics Laboratory include tandem mass spectrometry, gas chromatography-mass spectrometry, thin layer chromatography, HPLC and various enzymatic analyses. The UHealth Biochemical Genetics Laboratory works as part of a multidisciplinary team consisting of Geneticists, Genetic Counselors, Metabolic Nutritionists, Nurses and Social Workers to diagnose and manage patients with Inborn Errors of Metabolism.