Metabolic Disorders

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Metabolic Disorders

• Inborn Errors of Metabolism
• Dr. Sara Mitchell

2
Overview

• Proteins - what are they and what do they do?
• Amino Acids - what are they and what do they do?

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Eight Essential Amino Acids

• Tryptophan
• Lysine
• Methionine
• Phenylaline

• Theronine
• Valine
• Leucine
• Isolecucine

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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

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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/
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Phenylketonuria (PKU)What is it?

• The most common amino acidemia. Classic PKU
  develops in the absence of the enzyme
  phenylalanine hydroxylase.
• Incidence

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Phenylketonuria Hows it happen?

• Cause
• absent Phenylalanine hydroxylase causes a build
  up phenylalanine
• Effect

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Phenylketonuria

• Treatment
• Prognosis

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Galactocemia What is it?

• An inborn error of carbohydrate metabolism in
  which the hepatic enzyme galactose 1-phosphate
  uridine transferase is absent.
• Incidence

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Galactocemia How does it happen?
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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

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Galactocemia Diagnosis Treatment

• Diagnosis
• Treatment