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BCM - Baylor College of Medicine

Giving life to possible

Genetics Clinics

Metabolic Clinic

The Metabolic Clinic, a joint effort of the Department of Molecular and Human Genetics at Baylor College of Medicine and Texas Children's Hospital, offers optimal care, follow-up and diagnosis to patients with inherited diseases that deal with defects of inborn errors of metabolism.

The clinic is staffed by board-certified medical geneticists. This clinic functions with input from the nutritionist to assist patients with proper diet management as it pertains to their disorder. Continual management of diet as well as monitoring of patient's metabolites is an essential component of this clinic. Additionally, this clinic is diligent in the ongoing counseling of patients and their families in regards to the genetic diagnosis.

Genetic Conditions

Following is a list of genetic conditions evaluated in the clinic:

Biotin Defects
Congenital Lactic Acidosis
Fatty Acid Metabolism, Inborn error of (unknown)
Gaucher Disease
Glycogen Storage Disease
Glycolytic Enzymopathies
Hyperphenylalaninemias: Biopterin Deficiency; Hyperphe; Phenylketonuria (PKU); Maternal PKU Syndrome
Maple Syrup Urine Disease
Non-Ketotic Hyperglycinemia
Urea Cycle Disorders: Argininemia; Argininosuccinic Aciduria; Citrullinemia; Ornithine Transcarbamylase Deficiency (OTC)
Organic Aciduria: Branched Chain Organic Aciduria; Methylmalonic Acidemia; Malonyl-CoA Dehydrogenase Deficiency; Propionic Aciduria; Straight-Chain Organic Aciduria (MCAD, SCAD, Glutaric Aciduria); Unknown Disorders

Medical Director 
William J. Craigen, M.D., Ph.D. 
Professor, Department of Molecular and Human Genetics

Clinic Physicians 
William J. Craigen, M.D., Ph.D. 
Brett Graham, M.D., Ph.D. 
Brendan Lee, M.D., Ph.D. 
Fernando Scaglia, M.D. 
V. Reid Sutton, M.D. 

Clinic Coordinator
Kerri Lamance, R.N., B.S.N. 
Email: klamance@bcm.edu

Clinic Nurse 
Liz Bernica, R.N., B.S.N. 
Email: aebernic@texaschildrens.org