Juan Cabrera-Luque, PhD, joined Children's in 2004 working on Urea Cycle Disorders and Microbial Arginine Metabolism. In conjunction with Drs. Tuchman, Morizono, Caldovic and Senkevitch, he established the first salvageable murine model for N-Acetyl-L-Glutamate synthase (NAGS) deficiency. Additionally, he discovered two novel pathways of arginine biosynthesis in microbes based on his studies in the reaction catalyzed by the enzyme Ornithine Transcarbamylase (OTC).
During his initial years at Children's National, Dr. Cabrera-Luque's interest in Inborn Errors of Metabolism became the center of his research career. After transferring to Dr. Summar's lab, he focused on Phenylketonuria (PKU) and the effects that high concentrations of Phenylalanine (Phe) have on the Blood-Brain Barrier (BBB) function. He has established a novel enzymatic method for the detection and quantification of Phe levels in human plasma which is currently being developed as a point of care detector (similar to a glucose meter) to improve PKU patients lives.
He was recently awarded one of the NPKUA research grants (2016) to study the effects of high Phe concentrations (such as those found in PKU patients) on the BBB metabolism in collaboration with HemoShear Therapeutics.