Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.
Disorders of Amino acid
metabolism
By-lovnish Thakur
ASU2014010100099
Integrated Biotech
4th sem
Introduction
Protein which are major component of our diet
have amino acid as their precursor and also
act as important en...
Disorders
Phenylketonuria
Cause
• PKU is caused by a defect
in the gene that helps create
phenylalanine hydroxylase
• Unable to brea...
Treatment
Avoid foods high in protein
These include:
• eggs
• beans
• chicken
• beef
• pork
• fish
Medication- Sapropterin...
Methyl Malonic Aciduria
Cause
• Methylmalonic acidemia is
an autosomal recessive
disorder of amino acid
metabolism, involv...
brain.oxfordjournals.org
Treatment
• Protein-restricted diet- This modification decreases the
key amino acids (eg, isoleucine, valine, threonine,
m...
Alkaptonuria
Cause
Homogentisic dioxygenase (HGD)
Mutation on your homogentisate 1,2-
dioxygenase (HGD) gene
Used to break...
Treatment
• A low-protein diet.
• large doses of ascorbic acid, or vitamin C, to
slow down the accumulation of homogentisi...
flipper.diff.org
Maple syrup urine disease
Cause
Defects in any of the six
subunits of the BCKD
protein complex can cause
MSUD. The most co...
Treatment
• Treatment involved dietary restriction of the amino
acids leucine, isoleucine, and valine.
• Patients can be t...
Parkinson's Disease
Cause
progressive neurological
disorder that is caused by a
degeneration of cells in the
part of the b...
www.intechopen.com
Treatment
• Medicines, such as levodopa and dopamine agonists.
• Brain surgery, for example deep brain stimulation (DBS), ...
Homocystinuria
Cause
Certain genetic mutations present at
birth cause this disease.
The CBS gene holds instructions for
ma...
www.nips.ac.jp
Treatment
• High doses of vitamin B-6 are a successful
treatment for about half of the people with this
disorder.
• Eating...
Hartnup’s disease
Cause
disease is caused by a
mutation(six mutations in
SLC6A19) of the gene that
controls the processes ...
www.namrata.co
Treatment
• consists of a change in diet, avoidance of sunlight, and prescribing
sulfonamide drugs
• Consuming foods that ...
DIAGNOSIS
• Blood Test
• Urine Test
• Prenatal Screening
Based On the Symptoms
Conclusion
Amino acid metabolism is very important for
survival, any impairment will cause deadly
disease most of them can...
References
• Methylmalonic Acidemia Brief Overview of Methylmalonic Acidemia
(http://emedicine.medscape.com/article/116179...
Thank you
Disorders of amino acid metabolism
Disorders of amino acid metabolism
Upcoming SlideShare
Loading in …5
×
Upcoming SlideShare
Protein metabolism
Next
Download to read offline and view in fullscreen.

111

Share

Download to read offline

Disorders of amino acid metabolism

Download to read offline

Protein which are major 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

Related Books

Free with a 30 day trial from Scribd

See all

Disorders of amino acid metabolism

  1. 1. Disorders of Amino acid metabolism By-lovnish Thakur ASU2014010100099 Integrated Biotech 4th sem
  2. 2. Introduction Protein which are major 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
  3. 3. Disorders
  4. 4. Phenylketonuria Cause • PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase • Unable to break down phenylalanine. • This causes a buildup of phenylalanine in the body Symptoms • Seizures • Tremors, or trembling and shaking • Stunted growth • Hyperactivity • A musty odor of their breath, skin, or urine
  5. 5. Treatment Avoid foods high in protein These include: • eggs • beans • chicken • beef • pork • fish Medication- Sapropterin (Kuvan) for the treatment of PKU. Sapropterin helps lower phenylalanine levels. nutrisci.wisc.edu
  6. 6. Methyl Malonic Aciduria Cause • Methylmalonic 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 • Neurologic manifestations, such as seizure, encephalopathy, and stroke • Several cases have involved stroke
  7. 7. brain.oxfordjournals.org
  8. 8. Treatment • Protein-restricted diet- This modification decreases the key amino acids (eg, isoleucine, valine, threonine, methionine) that enter the metabolic pathway. • Cobalamin supplementation- may help because cobalamin is a cofactor in the enzymatic conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. • L-carnitine- an enzyme involved in the metabolism of long-chain fatty acids, buffers the acyl-CoA metabolites • Liver transplantation alone or in conjunction with kidney transplantation has been attempted
  9. 9. Alkaptonuria Cause Homogentisic dioxygenase (HGD) Mutation on your homogentisate 1,2- dioxygenase (HGD) gene Used to break down a toxic substance called homogentisic acid When you don’t 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 • Dark spots in the sclera (white) of your eyes • Thickened and darkened cartilage in your ears • Blue speckled discoloration of your skin, particularly around sweat glands • Black earwax • kidney stones and prostate stones • Arthritis (especially hip and knee joints)
  10. 10. Treatment • A low-protein diet. • large doses of ascorbic acid, or vitamin C, to slow down the accumulation of homogentisic acid in your cartilage. • Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. • Use of the drug nitisinone as a possible treatment for alkaptonuria.
  11. 11. flipper.diff.org
  12. 12. Maple syrup urine disease 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 • loss of appetite • fussiness • sweet-smelling urine
  13. 13. Treatment • Treatment involved dietary restriction of the amino acids leucine, isoleucine, and valine. • 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. • 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.
  14. 14. Parkinson's Disease Cause progressive neurological disorder that 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 • lowness of voluntary movements, especially in the initiation of such movements as walking or rolling over in bed • A shuffling gait with poor arm swing and stooped posture • Unsteady balance; difficulty rising from a sitting position
  15. 15. www.intechopen.com
  16. 16. Treatment • Medicines, such as levodopa and dopamine agonists. • 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. • 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. • Physical therapy:Therapists may help you improve your walking and reduce your risk of falling. • Occupational therapy: Therapists can help you learn new ways to do things for yourself so you can stay independent longer.
  17. 17. Homocystinuria Cause Certain genetic mutations present 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 • dislocation of the lenses in the eyes • nearsightedness • abnormal blood clots • osteoporosis, or weakening of the bones • learning disabilities • developmental problems • chest deformities, such as a protrusion or a caved-in appearance of the breastbone • long, spindly arms and legs • scoliosis
  18. 18. www.nips.ac.jp
  19. 19. Treatment • High doses of vitamin B-6 are a successful treatment for about half of the people with this disorder. • Eating a diet low in foods containing the amino acid methionine • 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.
  20. 20. Hartnup’s disease Cause disease is caused by a mutation(six mutations in SLC6A19) of the gene that controls the processes of amino acid absorption and reabsorption Symptoms • sensitivity to light • anxiety • rapid mood swings • hallucinations • delusions • intention tremor • speech difficulties • abnormalities in muscle tone: either muscles can become more tight
  21. 21. www.namrata.co
  22. 22. Treatment • consists of a change in diet, avoidance of sunlight, and prescribing sulfonamide drugs • Consuming foods that contain the B-complex vitamin niacin can significantly reduce your symptoms. • Good sources of niacin include:  meat  poultry  fish  fortified and whole grains  peanut butter  potatoes B-complex or niacin vitamin supplements (such as nicatonic acid)
  23. 23. DIAGNOSIS • Blood Test • Urine Test • Prenatal Screening Based On the Symptoms
  24. 24. Conclusion Amino acid metabolism is very important for survival, any impairment will cause deadly disease most of them can’t be treated
  25. 25. References • Methylmalonic Acidemia Brief Overview of Methylmalonic Acidemia (http://emedicine.medscape.com/article/1161799-overview#a7) • Alkaptonuria (http://www.healthline.com/health/alkaptonuria) • Maple Syrup Urine Disease (http://emedicine.medscape.com/article/946234-overview) • Maple Syrup Urine Disease (MSUD) (http://learn.genetics.utah.edu/content/disorders/singlegene/msud/) • Parkinson's Disease Health Center (http://www.webmd.com/parkinsons-disease/) • Homocystinuria (http://www.healthline.com/health/homocystinuria#Overview1) • Hartnup Disease (http://www.healthline.com/health/hartnup-disorder)
  26. 26. Thank you
  • KifungoShati

    Sep. 2, 2021
  • Gayii1

    Sep. 2, 2021
  • Sagarika93

    Aug. 13, 2021
  • AdoZedo

    Jul. 12, 2021
  • SamreenKhan105

    Jun. 16, 2021
  • DineshMeena49

    Jun. 12, 2021
  • kavithanagaraju1

    May. 21, 2021
  • NnenniaAtuanya

    May. 5, 2021
  • darthritesh07

    May. 4, 2021
  • KamlaYousif

    Apr. 30, 2021
  • Shyluuuuuuuuuuu

    Mar. 23, 2021
  • drneeharikakokkula

    Feb. 28, 2021
  • MarvellousOlayinka

    Feb. 25, 2021
  • AnjaniKumarGolla

    Feb. 3, 2021
  • OkediWilliams

    Feb. 2, 2021
  • AdeltusSilvery

    Jan. 31, 2021
  • PranjaliWeladi

    Jan. 22, 2021
  • VarmaSaurav1

    Jan. 19, 2021
  • ParmanandSahu7

    Jan. 4, 2021
  • ReemaRajan3

    Dec. 24, 2020

Protein which are major 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

Views

Total views

23,667

On Slideshare

0

From embeds

0

Number of embeds

23

Actions

Downloads

994

Shares

0

Comments

0

Likes

111

×