Beta-Ketothiolase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, and ketones, which are produced during the breakdown of fats.
Beta-ketothiolase deficiency appears to be very rare. Fewer than 250 affected individuals have been reported in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
Shailesh R Satpute, MD, PhD
Shailesh Satpute is a Hematologist Oncology specialist and a Hematologist in Memphis, Tennessee. Dr. Satpute is rated as a Distinguished provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Beta-Ketothiolase Deficiency, Iron Deficiency Anemia, Lung Cancer, Childhood Iron Deficiency Anemia, and Bone Marrow Aspiration.
Johns Hopkins Bayview Medical Center
Dr. Michael Kraut is a Professor in the Johns Hopkins Medicine Department of Radiology and Radiological Science. Dr. Kraut received his undergraduate degree in B.S. in biomedical engineering from the University of Southern California, and M.D., M.S. and Ph.D. degrees in neuroscience from the Albert Einstein College of Medicine. After a residency in diagnostic radiology at Beth Israel Hospital in Boston, MA, he completed a fellowship in neuroradiology at The Johns Hopkins Hospital, and joined the Johns Hopkins faculty thereafter. Dr. Kraut’s research interests include functional neuroimaging, especially as a tool to investigate cognitive operations and issues of visual and somatomotor function. A special interest, reflecting his background in neurophysiology, is the use of functional imaging techniques in concert with electrophysiologic measures in order to elucidate the temporal sequence as well as spatial distribution of neural activation. In addition to his roles at Johns Hopkins, Dr. Kraut serves as the Medical Director at F.M. Kirby Research Center for Functional Brain Imaging. Dr. Kraut is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Pediatric Low-Grade Glioma (pLGG), Meningioma, Subarachnoid Hemorrhage, and Malignant Peripheral Nerve Sheath Tumor.
Published Date: June 01, 2020
Published By: National Institutes of Health