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Succinic semialdehyde dehydrogenase deficiency

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Fong Chuitheng
Fong Chuitheng

The document summarizes a student project on succinic semialdehyde dehydrogenase deficiency. It lists the 10 student members and provides information on: - The disease being an autosomal recessive mutation of the ALDH5A1 gene causing abnormal GABA transmission. - Common and rare symptoms including developmental delay, hypotonia, and behavioral issues. - Current treatment using vigabatrin to inhibit GABA transaminase and prevent succinic semialdehyde accumulation with inconsistent results. - Use of benzodiazepines to suppress symptoms but not treat the underlying cause. - The importance of genetic counseling and testing for families due to the autosomal recessive inheritance.

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SBP 3007 Special Topic in Biomedical Sciences Title: Succinic Semialdehyde Dehydrogenase Deficiency Members: 1. Wong Siong Jiun 167288 2. Fong Chui Theng 172516 3. Yong Pui Yin 172519 4. Hu Hooi Ting 172862 5. Tan Tin Ming 173384 6. Ng Lih Sern 173401 7. Chew Wei Khong 173733 8. Te Hock Chai 174277 9. Gan Yee Thong 174278 10. Chai Yee Lin 175631
Succinic semialdehyde dehydrogenase deficiency is an autosomal recessive disease mutation of ALDH5A1 gene function-breakdown of a chemical that transmits signals in the brain, example: GABA
MOA gamma- hydroxybutyric acid
Disease Characteristic Frequent Less Frequent Rarely Developmental delay Speech Intelectual Hypotonia Hyporeflexia Behavioral Problems Hyperactivity Anxiety Hallucination Self-injuring Uncontrolled eye movement Choreoathetosis Irregular migrating contractions Twisting and writhing
Current treatment modality
Pharmacological effects: - Irreversible inhibitor of GABA transaminase - Inhibit the formation of succinic semialdehyde Side effects: - Inconsistent results and have not been effective in inhibiting peripheral GABA-transaminase outside of the central nervous system - Unwanted accumulation of succinic semialdehyde Vigabatrin
Benzodiazepine Pharmacological effects: - Control and suppress neurobehavioral symptoms such as anxiety, hallucinations, hyperkinesis, and aggressiveness Effectiveness: - However, this drug will only be able to suppress neurological aspects but not treating or eliminating disease from patients, thus symptoms could be emerged again if patients stop taking medication.
Alternative Treatment
Genetic counselling SSADH deficiency- autosomal recessive Family history of a genetic condition or birth defect Carrier testing Prenatal diagnosis
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Succinic semialdehyde dehydrogenase deficiency

  • 1. SBP 3007 Special Topic in Biomedical Sciences Title: Succinic Semialdehyde Dehydrogenase Deficiency Members: 1. Wong Siong Jiun 167288 2. Fong Chui Theng 172516 3. Yong Pui Yin 172519 4. Hu Hooi Ting 172862 5. Tan Tin Ming 173384 6. Ng Lih Sern 173401 7. Chew Wei Khong 173733 8. Te Hock Chai 174277 9. Gan Yee Thong 174278 10. Chai Yee Lin 175631
  • 2. Succinic semialdehyde dehydrogenase deficiency is an autosomal recessive disease mutation of ALDH5A1 gene function-breakdown of a chemical that transmits signals in the brain, example: GABA
  • 4. Disease Characteristic Frequent Less Frequent Rarely Developmental delay Speech Intelectual Hypotonia Hyporeflexia Behavioral Problems Hyperactivity Anxiety Hallucination Self-injuring Uncontrolled eye movement Choreoathetosis Irregular migrating contractions Twisting and writhing
  • 6. Pharmacological effects: - Irreversible inhibitor of GABA transaminase - Inhibit the formation of succinic semialdehyde Side effects: - Inconsistent results and have not been effective in inhibiting peripheral GABA-transaminase outside of the central nervous system - Unwanted accumulation of succinic semialdehyde Vigabatrin
  • 7. Benzodiazepine Pharmacological effects: - Control and suppress neurobehavioral symptoms such as anxiety, hallucinations, hyperkinesis, and aggressiveness Effectiveness: - However, this drug will only be able to suppress neurological aspects but not treating or eliminating disease from patients, thus symptoms could be emerged again if patients stop taking medication.
  • 9. Genetic counselling SSADH deficiency- autosomal recessive Family history of a genetic condition or birth defect Carrier testing Prenatal diagnosis