Metabolic Disorders - Inborn Errors of Metabolism

Metabolic Disorders - Inborn Errors of Metabolism
By: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
* Lysine
* Methionine
* Phenylaline
* Theronine
* Valine
* Leucine
* 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
o 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?
Galactocemia: Diagnosis & Treatment
* Diagnosis
* Treatment

Metabolic Disorders - Inborn Errors of Metabolism.ppt