We specialize in the diagnosis and treatment of inborn errors of metabolism, including organic acidemias, urea cycle defects, fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders and mitochondrial diseases among others. Many, but not all of these conditions can be detected through newborn screening programs.
A consultation is recommended when routine work-up does not lead to a clear diagnosis due to the fact that symptoms or signs of inherited metabolic disorders are frequently not specific.
Symptoms and signs:
Commonly treated disorders:
Services offered include:
Our physician concierge service expedites physician-to-physician communication with CHOC specialists.
Monday – Friday, 8:00 a.m. – 5:00 p.m.
Also assists with: