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Inborn Errors of Metabolism

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Inborn Errors of Metabolism An inherited enzyme deficiency leading to the disruption of normal bodily metabolism Accumulation of a toxic substrate (compound acted ... – PowerPoint PPT presentation

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Title: Inborn Errors of Metabolism


1
Inborn Errors of Metabolism
  • An inherited enzyme deficiency leading to the
    disruption of normal bodily metabolism
  • Accumulation of a toxic substrate (compound acted
    upon by an enzyme in a chemical reaction)
  • Impaired formation of a product normally produced
    by the deficient enzyme

2
Three Types
  • Type 1 Silent Disorders
  • Type 2 Acute Metabolic Crises
  • Type 3 Neurological Deterioration

3
Type 1 Silent Disorders
  • Do not manifest life-threatening crises
  • Untreated could lead to brain damage and
    developmental disabilities
  • Example PKU (Phenylketonuria)

4
PKU
  • Error of amino acids metabolism
  • No acute clinical symptoms
  • Untreated leads to mental retardation
  • Associated complications behavior disorders,
    cataracts, skin disorders, and movement disorders
  • First newborn screening test was developed in
    1959
  • Treatment phenylalaine restricted diet
    (specialized formulas available)

5
Type 2 Acute Metabolic Crisis
  • Life threatening in infancy
  • Children are protected in utero by maternal
    circulation which provide missing product or
    remove toxic substance
  • Example OTC (Urea Cycle Disorders)

6
OTC
  • Appear to be unaffected at birth
  • In a few days develop vomiting, respiratory
    distress, lethargy, and may slip into coma.
  • Symptoms mimic other illnesses
  • Untreated results in death
  • Treated can result in severe developmental
    disabilities

7
Type 3 Progressive Neurological Deterioration
  • Examples Tay Sachs disease
  • Gaucher disease
  • Metachromatic leukodystrophy
  • DNA analysis show mutations

8
Mutations
  • Nonfunctioning enzyme results
  • Early Childhood - progressive loss of
    motor and cognitive skills
  • Pre-School non responsive state
  • Adolescence - death

9
Other Mutations
  • Partial Disfunctioning Enzymes
  • -Life Threatening Metabolical Crisis
  • -ADH
  • -LD
  • -MR
  • Mutations are detected by Newborn Screening and
    Diagnostic Testing

10
Treatment
  • Dietary Restriction
  • Supplement deficient product
  • Stimulate alternate pathway
  • Supply vitamin co-factor
  • Organ transplantation
  • Enzyme replacement therapy
  • Gene Therapy

11
Children in School
  • Life long treatment
  • At risk for ADHD
  • LD
  • MR
  • Awareness of diet restrictions
  • Accommodations
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