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.
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Santosh Pandit is a Cardiologist in Pittsburgh,, Pennsylvania. 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.
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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.
Pierre Dalumpines is a primary care provider, practicing in Family Medicine in Gig Harbor, Washington. Dr. Dalumpines is rated as an Experienced provider by MediFind in the treatment of Peroxisomal Acyl-CoA Oxidase Deficiency. His top areas of expertise are Insomnia, Obesity in Children, High Cholesterol, and Opisthotonos. Dr. Dalumpines is currently accepting new patients.
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...
Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
Published Date: February 01, 2018
Published By: National Institutes of Health