Metabolic Disorders Inborn Errors of Metabolism Dr Sara
Metabolic Disorders Inborn Errors of Metabolism Dr. Sara Mitchell
Overview Proteins - what are they and what do they do? Amino Acids - what are they and what do they do?
Eight Essential Amino Acids Tryptophan Theronine Lysine Valine Methionine Leucine Phenylaline Isolecucine
Inborn Errors of metabolism Affects amino acid & protein, carbohydrate, and lipid metabolism. Most disorders are autosomal recessive in transmission Most disorders are evident at or soon after birth. Early detection and treatment are essential to the prevention of irreversible cognitive impairment and early death
Newborn Screening: What is it? A test developed in 1961 by Dr. Robert Guthrie to evaluate infants for certain genetic anomalies, inborn errors of metabolism, and other disorders. http: //health. state. ga. us/programs/nsmscd/
Phenylketonuria (PKU): What is it? The most common amino acidemia. Classic PKU develops in the absence of the enzyme phenylalanine hydroxylase. Incidence
Phenylketonuria: How’s it happen? Cause – absent Phenylalanine hydroxylase causes a build up phenylalanine Effect
Phenylketonuria Treatment Prognosis
Galactocemia: What is it? An inborn error of carbohydrate metabolism in which the hepatic enzyme galactose 1 -phosphate uridine transferase is absent. Incidence
Galactocemia: How does it happen?
Galactocemia: What are the clinical manifestations? Appear ____ at birth Begin to vomit and lose weight once _____ As _____ accumulates in the blood, several organs are affected. _____ dysfunction leads to ______ The ______becomes enlarged because of _____l hypertension. _____ develop by 1 to 2 months of age
Galactocemia: Diagnosis & Treatment Diagnosis Treatment
- Slides: 12