Metabolic defects in amino acid metabolism
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This document discusses amino acid metabolism and defects that can occur. It notes that amino acids contain amine and carboxylic acid groups and are important biomolecules. Metabolism involves the breakdown and conversion of molecules to produce energy. Defects can be hereditary due to defective genes or due to enzyme deficiencies that prevent proper chemical reactions. These defects disrupt amino acid metabolism and can cause various disorders.
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3. Prolamins
4. Glutelins
5. Histones
6. Protamines
7. Albuminoids
ii. Conjugated or compound proteins
1. Nucleoproteins
2. Mucoproteins
3. Chromoproteins
4. Lipoproteins
5. Metalloproteins
6. Phosphoproteins
B. Classification of proteins based on function
1. Catalytic proteins – Enzymes
2. Regulatory proteins – Hormones
3. Protective proteins – Antibodies
4. Storage proteins
5. Transport proteins
6. Toxic proteins
7. Structural proteins
8. Contractile proteins
9. Secretary proteins
10. Exotic proteins
C. Classification based on size and shape
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Metabolic defects in amino acid metabolism
- 2. 1. Khadija khawar 2. Mubeen dilawar 3. Sabiqa rafique 4. Suleman Wilson
- 3. •Amino acid introduction •Metabolism of amino acids •Metabolic defects in amino acid metabolism •Types of defects •Disorders due to metabolic defects •References
- 4. •Amino acids are biologically important organic compounds containing amine (-NH2) and carboxylic acid (-COOH) functional groups, usually along with a side-chain specific to each amino acid.
- 5. •Metabolism is the sum of the chemical processes and inter conversions that take place in the cells and the fluids of the body. •This includes the absorption of nutrients and minerals, the breakdown and buildup of large molecules, the inter conversion of small molecules, and the production of energy from these chemical reactions
- 6. •Proteins are the most important and the most abundant biomolecules in the human body. •Amino acids may also serve as precursors to many important substances for the body e.g. neurotransmitters, biogenic amines, heme or purines and pyrimidines and other nutrients carbohydrates and lipids. • Catabolism of their carbon skeletons covers approximately 10-15 % of the energy requirements of the body.
- 7. Three types 1. Defects in aromatic amino acids 2. Hereditary metabolic defects 3. Metabolic defects due to enzyme deficiency
- 8. •Aromatic amino acids have benzene ring include i. Phenylalanine ii. Tryptophan iii. Tyrosine • Aromatic amino acids are component for the production of neurotransmitters, including epinephrine, nor epinephrine, and dopamine melanin. • Phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase all require tetrahydrobiopterin (BH4) as a cofactor.
- 9. •Defects caused by some inherited abnormality from affected parents are termed as hereditary metabolic defects. •These defects can be due to some defective genes which cause improper translation of genes. •These defective genes can be inherited as autosomal recessive and dominant disorders.
- 12. •Virtually every chemical step of metabolism is catalyzed by an enzyme. •Disorders of these enzymes that result from abnormalities in their genes can be regarded as defective metabolism due to enzymes. •All the three types of defective metabolism can be interrelated with each other.
- 13. •Nutritional deficiencies •Improper transport of amino acids •Storage problems more accumulation in blood. •Malfunctioning of the active site of the enzyme.
Editor's Notes
- So metabolism is very imp for the requirments of the bodys proper functioning. 20 basic proteinogenic amino acids inserted into protein molecules during the translation process.
- Inborn errors of metabolism were first recognized by Sir Archibald Garrod, a British physician who noted in 1902 that the principles of Mendelian inheritance applied to certain examples of human metabolic variation. He perceived the genetic basis for a particular metabolic condition that leads to visible effects—alkaptonuria, which results in a black pigment in the urine. Since then, more advanced chemical methods have allowed the discovery of hundreds of enzyme defects that cause metabolic diseases.
- The metabolism of aromatic amino acid is catalyzed by a small family of enzymes containing phenylalanine (PheH), tyrosine (TyrH), and tryptophan (TrpH) hydroxylase. defects lead to deficiencies of dopamine and serotonin within the central nervous system.
- There are genes present in our genome that code for those proteins that have enzymatic functions for the degradation of amino acids. Autosomal disorders are more larger in no. then dominant one. Dominant is hawkinsinuria which is the inability to degrade the tyrosine.
- A genetic condition that appears only in individuals who have two copies of an autosomal gene, one copy from each parent. The gene is on an autosome chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
- As already said aromatic enzymes require tetrahydrobiotin as cofactor .which may lead to enzyme defective metabolism.