Download Metabolic Disorders

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?
Dietary Lactose
Galactose
Galactose 1-Phosphate
BRAIN
Mental retardation
LIVER
 Jaundice
 Hetaptomegaly
 Cirrhosis
Glucose
EYES
cataracts
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