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 TryptophanLysineMethioninePhenylalineTheronineValineLeucineIsolecucine

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. /

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 TreatmentPrognosis

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 DiagnosisTreatment