What is Inborn Error of Metabolism? - YouTube.
Seizure is a frequent symptom of metabolic diseases, but epilepsy syndromes due to inborn errors of metabolism are rather rare (1, 2).It is important to detect these disorders at an early stage, because many are treatable and many can be worsened by inadvertent use of certain antiepileptic medications.
These are only a very few of the hundreds of known inborn errors of metabolism. Advances in the diagnosis and treatment of inborn errors of metabolism have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful.
Many inborn errors of metabolism aren’t curable, but they may have effective treatments. Registered dietitians can create specialized diets for children with these conditions. Children will need to follow these diets for life to prevent organ damage and other serious problems.
Historical perspective—inborn errors of metabolism were first recognized by Archibald Garrod, whose studies illustrated the dynamic aspects of human biochemistry and how unitary hereditary factors caused variation in the turnover of physiological metabolites derived from dietary components. He proposed that the activity of enzymes involved in human metabolism (e.g. of tyrosine degradation.
Inborn errors of metabolism are a group of inherited disorders characterized by enzyme defects. Clinical manifestations are usually due to the accumulation of toxic substances in the body. While in many cases the disorder cannot be cured, disease outcomes and life expectancy can be improved with supportive care and the appropriate diet.
All Metabolism (Glucose, Lipid and Protein)Path: Acetyl-CoA to Krebs Cycle; Disrupted pathway results in build up of Ketones; Glucose Metabolism. Path: Glycogen (and fructose, galactose) to Glucose to pyruvate to actetyl-CoA (and Krebs Cycle); Disrupted pathway results in build-up of Lactic Acid and Ketones; Brain may use Ketones for fuel by 12-24 hours and Lactic Acid in chronic elevations.
Clinical Presentation. Inborn errors of metabolism, which are due to impaired activity of enzymes, transporters, or cofactors, result in accumulation of abnormal metabolites (substrates) proximal to the metabolic block, or lack of necessary products.