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Disorders of amino acid metabolism
- 1. Disorders of Aminoacid metabolism By-lovnish Thakur ASU2014010100099 Integrated Biotech 4th sem
- 2. Introduction Protein which aremajor component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
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- 5. Phenylketonuria Cause âĸ PKU iscaused by a defect in the gene that helps create phenylalanine hydroxylase âĸ Unable to break down phenylalanine. âĸ This causes a buildup of phenylalanine in the body Symptoms âĸ Seizures âĸ Tremors, or trembling and shaking âĸ Stunted growth âĸ Hyperactivity âĸ A musty odor of their breath, skin, or urine
- 6. Treatment Avoid foods highin protein These include: âĸ eggs âĸ beans âĸ chicken âĸ beef âĸ pork âĸ fish Medication- Sapropterin (Kuvan) for the treatment of PKU. Sapropterin helps lower phenylalanine levels. nutrisci.wisc.edu
- 7. Methyl Malonic Aciduria Cause âĸMethylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA Symptom âĸ Neurologic manifestations, such as seizure, encephalopathy, and stroke âĸ Several cases have involved stroke
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- 9. Treatment âĸ Protein-restricted diet-This modification decreases the key amino acids (eg, isoleucine, valine, threonine, methionine) that enter the metabolic pathway. âĸ Cobalamin supplementation- may help because cobalamin is a cofactor in the enzymatic conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. âĸ L-carnitine- an enzyme involved in the metabolism of long-chain fatty acids, buffers the acyl-CoA metabolites âĸ Liver transplantation alone or in conjunction with kidney transplantation has been attempted
- 10. Alkaptonuria Cause Homogentisic dioxygenase (HGD) Mutationon your homogentisate 1,2- dioxygenase (HGD) gene Used to break down a toxic substance called homogentisic acid When you donât produce enough HGD, homogentisic acid builds up in your body The buildup of homogentisic acid causes your bones and cartilage to become discolored and brittle. Symptoms âĸ Dark spots in the sclera (white) of your eyes âĸ Thickened and darkened cartilage in your ears âĸ Blue speckled discoloration of your skin, particularly around sweat glands âĸ Black earwax âĸ kidney stones and prostate stones âĸ Arthritis (especially hip and knee joints)
- 11. Treatment âĸ A low-proteindiet. âĸ large doses of ascorbic acid, or vitamin C, to slow down the accumulation of homogentisic acid in your cartilage. âĸ Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. âĸ Use of the drug nitisinone as a possible treatment for alkaptonuria.
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- 13. Maple syrup urinedisease Cause Defects in any of the six subunits of the BCKD protein complex can cause MSUD. The most common defect is caused by a mutation in a gene on chromosome 19 that encodes the alpha subunit of the BCKD complex (BCKDHA). Symptoms âĸ loss of appetite âĸ fussiness âĸ sweet-smelling urine
- 15. Treatment âĸ Treatment involveddietary restriction of the amino acids leucine, isoleucine, and valine. âĸ Patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine, and valine for protein synthesis. âĸ Gene therapy is also a potential future treatment for patients with MSUD. This treatment would involve replacing the mutated gene with a good copy, allowing the patient's cells to make a functional BCKD protein complex and break down the excess amino acids.
- 16. Parkinson's Disease Cause progressive neurological disorderthat is caused by a degeneration of cells in the part of the brain that produces the neurotransmitter dopamine (chemical messenger) Symptoms Symptoms of Parkinson's disease differ from person to person âĸ lowness of voluntary movements, especially in the initiation of such movements as walking or rolling over in bed âĸ A shuffling gait with poor arm swing and stooped posture âĸ Unsteady balance; difficulty rising from a sitting position
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- 18. Treatment âĸ Medicines, suchas levodopa and dopamine agonists. âĸ Brain surgery, for example deep brain stimulation (DBS), may be considered when medicine fails to control symptoms of Parkinson's disease or causes severe or disabling side effects. âĸ Speech therapy:Speech therapists use breathing and speech exercises to help you overcome the soft, imprecise speech and monotone voice that develop in advanced Parkinson's disease. âĸ Physical therapy:Therapists may help you improve your walking and reduce your risk of falling. âĸ Occupational therapy: Therapists can help you learn new ways to do things for yourself so you can stay independent longer.
- 19. Homocystinuria Cause Certain genetic mutationspresent at birth cause this disease. The CBS gene holds instructions for making an enzyme that uses vitamin B-6 to metabolize the amino acids homocysteine and serine. The mutations prevent the normal functioning of the CBS gene. This results in a buildup of homocysteine and other toxins that damage the nervous system, which includes the brain, and the vascular system Symptoms âĸ dislocation of the lenses in the eyes âĸ nearsightedness âĸ abnormal blood clots âĸ osteoporosis, or weakening of the bones âĸ learning disabilities âĸ developmental problems âĸ chest deformities, such as a protrusion or a caved-in appearance of the breastbone âĸ long, spindly arms and legs âĸ scoliosis
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- 21. Treatment âĸ High dosesof vitamin B-6 are a successful treatment for about half of the people with this disorder. âĸ Eating a diet low in foods containing the amino acid methionine âĸ Betaine is a nutrient that works to remove homocysteine from the blood. Taking a folic acid supplement and adding the amino acid cysteine to the diet are helpful.
- 22. Hartnupâs disease Cause disease iscaused by a mutation(six mutations in SLC6A19) of the gene that controls the processes of amino acid absorption and reabsorption Symptoms âĸ sensitivity to light âĸ anxiety âĸ rapid mood swings âĸ hallucinations âĸ delusions âĸ intention tremor âĸ speech difficulties âĸ abnormalities in muscle tone: either muscles can become more tight
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- 24. Treatment âĸ consists ofa change in diet, avoidance of sunlight, and prescribing sulfonamide drugs âĸ Consuming foods that contain the B-complex vitamin niacin can significantly reduce your symptoms. âĸ Good sources of niacin include: ī§ meat ī§ poultry ī§ fish ī§ fortified and whole grains ī§ peanut butter ī§ potatoes B-complex or niacin vitamin supplements (such as nicatonic acid)
- 25. DIAGNOSIS âĸ Blood Test âĸUrine Test âĸ Prenatal Screening Based On the Symptoms
- 26. Conclusion Amino acid metabolismis very important for survival, any impairment will cause deadly disease most of them canât be treated
- 27. References âĸ Methylmalonic AcidemiaBrief Overview of Methylmalonic Acidemia (http://emedicine.medscape.com/article/1161799-overview#a7) âĸ Alkaptonuria (http://www.healthline.com/health/alkaptonuria) âĸ Maple Syrup Urine Disease (http://emedicine.medscape.com/article/946234-overview) âĸ Maple Syrup Urine Disease (MSUD) (http://learn.genetics.utah.edu/content/disorders/singlegene/msud/) âĸ Parkinson's Disease Health Center (http://www.webmd.com/parkinsons-disease/) âĸ Homocystinuria (http://www.healthline.com/health/homocystinuria#Overview1) âĸ Hartnup Disease (http://www.healthline.com/health/hartnup-disorder)
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