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Glutaric Acidemia (Type 2)

Glutaric Acidemia (Type 2). By: Mrs. Yost 4/23/10. What is GA-2?. Very rare (unknown) No specific groups affected Genetic metabolic disorder Glucose  energy for cells Trouble breaking down: Fat  energy Protein  energy. The Genes That Cause GA-2. Polygenic: ETFA (chromosome 15)

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Glutaric Acidemia (Type 2)

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  1. Glutaric Acidemia (Type 2) By: Mrs. Yost 4/23/10

  2. What is GA-2? • Very rare (unknown) • No specific groups affected • Genetic metabolic disorder • Glucose  energy for cells • Trouble breaking down: • Fat  energy • Protein  energy

  3. The Genes That Cause GA-2 • Polygenic: • ETFA (chromosome 15) • ETFB (chromosome 19) • ETFDH (chromosome 4)

  4. The Affected Proteins • ETFA & ETFB • Alpha & beta subunit of ETF enzyme • ETFDH • Another enzyme (ETF:QO) • Normal function: • In mitochondria of cells • Breaks down fats & proteins for energy

  5. Gene Mutations that Lead to GA-2 • Many types of mutations • Lacking / defective enzyme • Effects: • Hypoglycemia • Partial breakdown products build up (acidemia)

  6. Metabolic crisis: Weakness / irritability Nausea / diarrhea / vomiting Hypoglycemia Acidosis Stop breathing Seizures Coma Symptoms & Prognosis • Complications: • Organ damage • Learning disabilities

  7. Inheritance Pattern • Autosomal recessive • Carriers – no symptoms • Not spontaneous

  8. Inheritance Example 1 • Mother = carrier • Father = normal • 50% chance of carriers • 0% chance of disease

  9. Inheritance Example 2 • Mother = carrier • Father = carrier • 50% chance of carriers • 25% chance of disease

  10. Diagnosis: Signs upon birth or sometimes later Newborn screening Genetic testing Treatment: Eat frequently (4-6 hrs) Specialized diet High carbohydrate Supplements “Sick day” plan Diagnosis & Treatment

  11. Support & Outlook • Everyday life • Support groups: • Fatty Oxidation Disorders Family Support Group • Organic Acidemia Association • Prevention • Prognosis • Working on a cure?

  12. Works Cited • All In This Together!. 2010. FOD Family Support Group. 4/14/2010. [http://www.fodsupport.org/]. • Glutaric Acidemia, Type 2. 5/28/2008. Screening, Technology and Research in Genetics. 4/14/2010 [http://www.newbornscreening.info/Parents/fattyaciddisorders/GA2.html]. • Glutaric Acidemia Type II. 4/11/2010. Genetics Home Reference. 4/14/2010 [http://ghr.nlm.nih.gov/condition=glutaricacidemiatypeii]. • Organic Acidemia Association. 2010. Organic Acidemia Association. 4/14/2010. [http://www.oaanews.org/].

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