Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
Variants (also known as mutations) in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Fa CV Consultants PC
Fadi A Elatat is a Cardiologist practicing medicine in Montclair, New Jersey. Dr. A Elatat is rated as a Distinguished provider by MediFind in the treatment of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Arterial Embolism, Lemierre Syndrome, Mondor Disease, and Hernia Surgery.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
Georgianne Arnold is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Arnold is rated as an Advanced provider by MediFind in the treatment of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.
Lenox Baker Children's Hospital
I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Advanced provider by MediFind in the treatment of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mitochondrial Trifunctional Protein Deficiency, Protein Deficiency, Von Gierke Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Hassan is board certified in American Board Of Medical Genetics And Genomics, Clinical Genetics and American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics.
Published Date: January 20, 2023
Published By: National Institutes of Health