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 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 Disorder
- William J. Craigen, M.D., Ph.D.
- Brendan Lee, M.D., Ph.D.
- Fernando Scaglia, M.D.
- V. Reid Sutton, M.D.
- Brett Graham, M.D., Ph.D.
Kerri Lamance, R.N., B.S.N.
Liz Bernica, R.N., B.S.N.
William J. Craigen, M.D., Ph.D.
Professor, Department of Molecular and Human Genetics