biochemical genetics 2 1-15
TRANSCRIPT
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Biochemical Genetics
Medical Genetics
MPH2-1-15
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Learning Objectives
• By the end of this lecture……….we all should be able to appreciate:
– Different groups of biochemical disorders.
– Features of Common biochemical disorders.
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Metabolic disorders
• Mostly inherited in an autosomal recessive or X-linked manner
• The disorder can also manifest in the heterozygous state – If the reaction is catalyzed by an enzyme is rate
limiting • Tyrosine hydroxylase catalyses the reaction in which L-
tyrosine is hydroxylated to DOPA, the rate limiting step in the biosynthesis of catecholamines, alterations in the enzyme activity may be involved in disorders such as Parkinson's disease and schizophrenia.
– The gene product is part of a multimcric complex.
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Enzyme Deficiencies
Q1. D/D of HomocystinuriaQ2. Dx and Treatment if any?
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Sites of Enzyme Deficiencies
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Enzymes Involved in Phenylalanine metabolism and deficiency states
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Urea Cycle DisordersEnzyme Deficiencies
• The urea cycle is a five-step metabolic pathway that takes place primarily in liver cells for the removal of waste nitrogen from the amino groups of amino acids arising from the normal turnover of protein.
• It converts two molecules of ammonia and one of bicarbonate into urea.• Disorders related to urea cycle are rare.
Q3. Dx and Treatment?
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Urea Cycle Disorders
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Enzyme Deficiencies of Carbohydrate metabolism
Q4. Differences in Glycogen storage diseases
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Glycogen storage diseases
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Steroid MetabolismEnzyme Deficiencies
Q5. Features of Congenital adrenal hyperplasia.Q6. Familial hypercholestrolemia?
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Lipid SynthesisEnzyme Disorders
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Lysosomal Storage Disease
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Lysosomal Enzyme DeficienciesEnzyme Deficiencies
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Lysosomal Enzyme DeficienciesEnzyme Deficiencies
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Enzyme Deficiencies of purine metabolism
Q7. Features of ADA deficiency. Gene therapy for ADA?
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Enzyme DeficienciesCopper metabolism
Q8. Features of WD?
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Enzyme Deficiencies
Q9. Role of peroxisome?Q10. Features of Zellwegersyndrome?Q11. Features of Adrenoleukodystropy?
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Enzyme Deficiencies
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Questions?