Peroxisomal Acyl-CoA Oxidase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.
Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene, which provides instructions for making an enzyme called peroxisomal straight-chain acyl-CoA oxidase. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down many different substances. The peroxisomal straight-chain acyl-CoA oxidase enzyme plays a role in the breakdown of certain fat molecules called very long-chain fatty acids (VLCFAs). Specifically, it is involved in the first step of a process called the peroxisomal fatty acid beta-oxidation pathway. This process shortens the VLCFA molecules by two carbon atoms at a time until the VLCFAs are converted to a molecule called acetyl-CoA, which is transported out of the peroxisomes for reuse by the cell.
Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen cases have been described 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.
UPMC Heart And Vascular Institute
Santosh Pandit, MD, specializes in cardiology and is board-certified by the American Board of Internal Medicine, the National Board of Echocardiography, and the Certification Board of Nuclear Cardiology. He practices at UPMC Heart and Vascular Institute and is affiliated with UPMC Passavant. Dr. Pandit received his medical degree from Dr. Shankarrao Chavan Government Medical College in Nanded, India and completed his residency at the University of Pittsburgh School of Medicine, followed by a fellowship at Deborah Heart and Lung Center. Dr. Pandit is rated as an Advanced provider by MediFind in the treatment of Peroxisomal Acyl-CoA Oxidase Deficiency. His top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Atrial Fibrillation, Aortic Valve Stenosis, and Hypertension.
Optimal Integrative Care
Joel Rosenstock attended Cornell University as an undergraduate, University of Brussels for medical school and completed an internal medicine residency at the University of Louisville in Louisville, Kentucky and Christ Hospital in Cincinnati, Ohio. He trained in infectious diseases at National Naval Medical Center in Bethesda, Maryland and was then on the faculty at the Uniformed Services University of the Health Sciences in Bethesda in the Division of Tropical Public Health. He obtained an MPH in epidemiology while at the medical school. He spent 3 years in the Republic of Panama teaching tropical infectious diseases to military physicians at the Naval School of Health Sciences. After leaving the Navy in 1989 he began his private practice in infectious diseases at Piedmont Hospital in Atlanta, Georgia. He served as the Medical Advisor to CARE for 7 years and established the Peachtree Travel Clinic one of the largest travel clinics in the Southeast. Dr. Rosenstock served as the President of the Infectious Disease Society of Georgia from 1998-2002. He established AbsoluteCARE, a patient centered medical home, dedicated to HIV and chronic disease management in 2000 and it has grown to be the largest provider of insured HIV care in Georgia. AbsoluteCARE, an NCQA Level III Recognized Patient Centered Medical Home (PCMH), serves 3000 HIV infected patients and another 2500 patients with chronic medical comorbidities. As the Chief Medical Officer of AbsoluteCARE, Dr. Rosenstock has guided its growth and recent expansion to a second location in Baltimore, Maryland. Dr. Rosenstock is rated as an Advanced provider by MediFind in the treatment of Peroxisomal Acyl-CoA Oxidase Deficiency. His top areas of expertise are Long Haul COVID, Primary Carnitine Deficiency, Peroxisomal Acyl-CoA Oxidase Deficiency, and Vitamin D Deficiency.
Ralph Mayer, MD Private Practice
To your good health! Dr. Ralph Mayer is a board-certified gynecologist. He is a urogynecologist serving patients in Beverly Hills, California. He has 26 years treating patients with gynecologic surgical problems. He specializes in bladder control and pelvic surgery. He performs vaginal reconstructive surgery, labial contouring, vulvar reductions as well as laparoscopic surgery, endometrial ablation, and minimally-invasive surgery and permanent birth control. Hysterectomy when needed can be done with laparoscopic assistance. He is an out-of-network provider. Dr. Mayer earned his medical degree at the University of California, Los Angeles. After graduation, he entered a residency program at Cedars Sinai Medical Center in Los Angeles. Dr. Mayer also completed a fellowship at Harbour UCLA Medical Center in Urogynecology. During this training program, Dr. Mayer gained the knowledge and surgical skills necessary to perform intricate and complex vaginal rejuvenation procedures. In his 20 years of clinical practice, he has helped thousands of these patients with excellent clinical results. Dr. Mayer is a well-respected physician in the community and has a prominent role in Medical Staff Services at the California Hospital Medical Center, even while maintaining privileges at Cedars-Sinai Medical Center. After serving as the Chair of the OB/GYN department for 8 years, he is now Chief of Staff elect. He has served on many committees during his career, including surgical services and credentialing. In addition, Dr. Mayer is responsible for teaching Cedars-Sinai OB/GYN residents and USC family medicine residents. He is on the clinical staff at USC.Dr. Ralph Mayer and his healthcare team are here for you. We take the time to get to know you and understand your needs. We help you live your best life by helping you come to the healthcare decisions only you and your doctor can make - together. Dr. Mayer is rated as an Advanced provider by MediFind in the treatment of Peroxisomal Acyl-CoA Oxidase Deficiency. His top areas of expertise are Menorrhagia, Angiomyoma, Uterine Fibroids, Peroxisomal Acyl-CoA Oxidase Deficiency, and Hysterectomy.
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
Published Date: February 01, 2018
Published By: National Institutes of Health