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Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
Alternative NamesMetabolism - inborn errors of
Side EffectsA food product that is not metabolized (broken down into energy) can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause developmental delay if not controlled. There are wide number of inborn errors of metabolism. This article offers a general overview.
Specific information is available on the following forms of inborn errors of metabolism:
RecommendationsDiet changes may control the disorder. The type and extent of the changes depends on the specific metabolic error. For example, persons with galactosemia should avoid milk and milk products, including yogurt, cheese, and ice cream. Galactose and lactose-free milk substitutes and foods should be used.
Health care providers and registered dietitians can help create a diet appropriate for the specific disease.
Wiki User
∙ 13y ago
Wiki User
∙ 12y agoInborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
Alternative NamesMetabolism - inborn errors of
Side EffectsA food product that is not metabolized (broken down into energy) can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause developmental delay if not controlled. There is a wide number of inborn errors of metabolism. This article offers a general overview.
Specific information is available on the following forms of inborn errors of metabolism:
RecommendationsDiet changes may control the disorder. The type and extent of the changes depends on the specific metabolic error. For example, persons with galactosemia should avoid milk and milk products, including yogurt, cheese, and ice cream. Galactose and lactose-free milk substitutes and foods should be used.
Health care providers and registered dietitians can help create a diet appropriate for the specific disease.
Reviewed ByReview Date: 06/18/2011
Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina, Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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What has the author Vicky Allen LeGrys written?
Vicky Allen LeGrys has written: 'The Laboratory diagnosis of selected inborn errors of metabolism' -- subject(s): Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Methods
What is inborn error of metabolism?
Inborn error of metabolism is a rare enzyme deficiency; children with inborn errors of metabolism do not have certain enzymes that the body requires to maintain organ functions.
What can inborn errors of metabolism cause?
Inborn errors of metabolism can disrupt normal biochemical processes in the body, leading to a variety of symptoms such as developmental delays, intellectual disability, seizures, organ dysfunction, and metabolic imbalances. If left untreated, these conditions can result in serious health complications and potentially life-threatening situations for affected individuals. Early detection and management are crucial for improving outcomes for individuals with inborn errors of metabolism.
What has the author Carol Kari written?
Carol Kari has written: 'Understanding Gaucher disease' -- subject(s): Gaucher's disease, Genetic aspects, Genetic aspects of Gaucher's disease, Inborn errors of Metabolism, Metabolism, Inborn errors of, Treatment
What inborn metabolism problem can result in mental retardation?
Single gene defects such as phenylketonuria (PKU) and other inborn errors of metabolism may also cause mental retardation if they are not found and treated early.
What has the author David J Galton written?
David J. Galton has written: 'Molecular Genetics and Common Metabolic Disease' 'Molecular genetics of common metabolic disease' -- subject(s): Atherosclerosis, Diabetes, Disorders, Familial & genetic, Genetic aspects, Genetic aspects of Atherosclerosis, Genetic aspects of Diabetes, Genetic aspects of Hyperlipidemia, Genetic aspects of Inborn errors of metabolism, Hyperlipidemia, Inborn Errors Metabolism, Inborn errors of Metabolism, Metabolism, Molecular genetics
What has the author Morton F Goldberg written?
Morton F. Goldberg has written: 'Genetic and metabolic eye disease' -- subject- s -: Diseases, Eye, Genetic aspects, Inborn errors of Metabolism, Metabolism, Inborn errors of, Ocular manifestations of general diseases
What has the author Reinhard L Friede written?
Reinhard L. Friede has written: 'Developmental neuropathology' -- subject(s): Developmental neurobiology, In infancy & childhood, In infancy and childhood, Inborn Errors Metabolism, Inborn errors of Metabolism, Nervous System Diseases, Pathology, Pediatric neurology
What has the author Sally Kelly written?
Sally Kelly has written: 'Birth Defects' 'Biochemical methods in medical genetics' -- subject(s): Biochemical Genetics, Clinical chemistry, Diagnosis, Inborn Errors Metabolism, Inborn errors of Metabolism, Laboratory Diagnosis, Laboratory manuals, Mass Screening, Medical genetics, Technique
What has the author Jane Elizabeth Collins written?
Jane Elizabeth Collins has written: 'Isotope turnover studies in children with inborn errors of metabolism'
What has the author Uttam Garg written?
Uttam Garg has written: 'Laboratory diagnosis' -- subject(s): Laboratory Diagnosis, Inborn errors of Metabolism, Diagnosis
Which cause of fat is least controllable?
Inherited (or genetic) causes. Inborn errors of metabolism are genetic, and require serious medical interventions quite often.
