Background One patient has been reported with 2,4-Dienoyl-CoA Reductase Deficiency. This enzyme is necessary for the degradation of unsaturated fatty acids having even numbered double bonds.
Clinical The patient was born with a small body habitus, a short trunk, arms and fingers, and microcephaly. She was readmitted to the hospital on day 2 of life with symptoms of sepsis, hypotonia, decreased feeding and intermittent vomiting. A low carnitine level was found in her plasma. She responded poorly to treatment in the hospital, and later developed respiratory acidosis and died at 4 months of age.
Testing
Newborn screening using tandem mass spectrometry may reveal C10:2 acylcarnitine as a pathognomonic finding. Urine organic acid analysis was normal in the one patient and plasma amino acids showed elevated lysine. The enzyme deficiency can be demonstrated in liver and muscle tissue.
Treatment
Suggested treatment for 2,4-Dienoyl-CoA Reductase Deficiency involves feeding the patient a formula containing fat derived from medium-chain triglycerides (MCT), administering pharmacologic doses of carnitine, and avoiding fasting. Because the diagnosis and therapy of metabolic disorders like this is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.
Inheritance
This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders, affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder. As with all genetic diseases, genetic counseling may be appropriate to help families understand recurrence risks and ensure that they receive proper evaluation and care.
References Roe, C.R., Millington, D.S., Norwood, D.L., et al. 2,4-Dienoyl-CoA Reductase Deficiency: A possible new disorder of fatty acid oxidation. J Clinical Investigation 85:1703, 1990. Roe, C.R. and Ding, J. Mitochondrial Fatty Acid Disorders. In, The Metabolic and Molecular Basis of Inherited Disease. 8th Edition, 2001. Scriver, Beaudet, et al. McGraw-Hill. Chapter 101, pg. 2297 - 2326.
Web Sites SaveBabies.org
Site established and maintained by parents of newborns affected with a rare genetic defect, with information for parents and professionals and links to other informative sites. National Newborn Screening and Genetics Resource Center
Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
FOD Support.org
This site is intended to be used as a resource for families, friends, doctors, researchers and others who would like to support, educate and provide a forum for the sharing of ideas and concerns for those whose lives have been touched by a Fatty Oxidation Disorder. Disclaimers
The analyses conducted by PerkinElmer Genetics produce results that can be used by qualified physicians in the diagnosis of disorders described herein. Evidence of these conditions will be detected in the vast majority of affected individuals; however, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient, and other variables, such conditions may not be detected in all affected patients. PerkinElmer Genetics makes no warranty whatsoever, express or implied, including any warranty as to accuracy, completeness or timeliness, concerning the information contained herein, and you should not assume that such information is complete or the most up-to-date information available. PerkinElmer Genetics shall not be liable for any loss, claim or damages caused in whole or in part by our provision of, or your use of, any of the information contained herein. As a general statement, this information was drawn from published literature and is not drawn from our patient population or screening experience. The information contained herein is not intended to be a substitute for professional medical advice and should not be used for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.
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