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
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
Inborn errors of amino acid metabolismRamesh Gupta
Inherited disorders of amino acid metabolism e.g. phenylketonuria, maple syrup urine disease, alkaptonuria, homocystinuria, Hartnup disease etc for medical, biochemistry and biology undergraduates
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.
Inborn errors of amino acid metabolismRamesh Gupta
Inherited disorders of amino acid metabolism e.g. phenylketonuria, maple syrup urine disease, alkaptonuria, homocystinuria, Hartnup disease etc for medical, biochemistry and biology undergraduates
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed w
Definition:
Many childhood conditions are caused by gene mutations that encode specific proteins. These mutations can result in the alteration of primary protein structure or the amount of protein synthesized.
The functional ability of protein, whether it is an enzyme, receptors, transport vehicle, membrane, or structural element, may be relatively or seriously compromised.
These hereditary biochemical disorders are collectively termed as ‘’Inborn errors of metabolism’’
Inborn errors of metabolism
Definition:- Inborn errors of metabolism occur from a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components.
Inborn errors of metabolism
Definition:- These are a group of rare genetic disorders in which the body cannot metabolize food components normally.
These disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down very essential biochemical components.
Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed w
prabin kumar bam, introduction of hepatic encephalopathy, treatment measures, drugs used in hepatic encephalopathy, management of hepatic encephalopathy, role of lactulose, role of antibiotics (Rifaximin), nutrition, liver transplantation, prophylaxis,
Vitamins as coenzymes, different forms and deficiency disorders Lovnish Thakur
Vitamins are organic compounds which are needed in small quantities to sustain life.
Get from food, because the human body either does not produce enough of them, or none at all
Niosomes are a novel drug delivery system, in which the medication is encapsulated in a vesicle. The vesicle is composed of a bilayer of non-ionic surface active agents and hence the name niosomes.
Small herb-use as a medicine & ritualistic worship
leaves, seeds, roots, flowers and the stem- recommended for their healing properties in Ayurvedic medicine system
chemical composition-
highly complex
containing many
nutrients and other
biological active
Compounds
A knockout mouse is a mouse in which a specific gene has been inactivated or“knocked out” by replacing it or disrupting it with an artificial piece of DNA.
The loss of gene activity often causes changes in a mouse's phenotype and thus provides valuable information on the function of the gene.
Central nervous system (CNS) lymphoma is a disease in which malignant (cancer) cells form in the lymph tissue of the brain and/or spinal cord
Fatal Condition
x-rays, MRI and computed tomography (CT) scans
Lack technique for early diagnosis
Pharmacopoeia: the word derives from the ancient Greek word pharmakon means drug & poeia- to make.
It is a legally binding collection, prepared by a national or regional authority& contains list of medicinal substances, crude drug & formulas for making preparation from them.
A membrane protein is a protein molecule that is attached to, or associated with the membrane of a cell or an organelle.
More than half of all proteins interact with membranes.
Gel electrophoresis native, denaturing&reducingLovnish Thakur
Electrophoresis is a technique used to separate and sometimes purify macromolecules - especially proteins and nucleic acids - that differ in size, charge or conformation.
Colorants or coloring agents are mainly used to impart a distinctive appearance to the pharmaceutical dosage forms.
We can also say that the colorants are the cosmetics for the pharmaceutical preparations, because the aesthetic appearance of dosage forms can be enhanced by using suitable colorants.
Optical rotatory dispersion is the variation in the optical rotation of a substance with a change in the wavelength of light.
For wavelengths that are absorbed by the optically active sample, the two circularly polarized components will be absorbed to differing extents. This unequal absorption is known as circular dichroism.
ATP synthase—also called FoF1 ATPase is the universal protein that terminates oxidative phosphorylation by synthesizing ATP from ADP and phosphate.
ATP Synthase is one of the most important enzymes found in the mitochondria of cells
Ethnobotany and Ethnopharmacology:
Ethnobotany in herbal drug evaluation,
Impact of Ethnobotany in traditional medicine,
New development in herbals,
Bio-prospecting tools for drug discovery,
Role of Ethnopharmacology in drug evaluation,
Reverse Pharmacology.
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
The French Revolution, which began in 1789, was a period of radical social and political upheaval in France. It marked the decline of absolute monarchies, the rise of secular and democratic republics, and the eventual rise of Napoleon Bonaparte. This revolutionary period is crucial in understanding the transition from feudalism to modernity in Europe.
For more information, visit-www.vavaclasses.com
The Art Pastor's Guide to Sabbath | Steve ThomasonSteve Thomason
What is the purpose of the Sabbath Law in the Torah. It is interesting to compare how the context of the law shifts from Exodus to Deuteronomy. Who gets to rest, and why?
Model Attribute Check Company Auto PropertyCeline George
In Odoo, the multi-company feature allows you to manage multiple companies within a single Odoo database instance. Each company can have its own configurations while still sharing common resources such as products, customers, and suppliers.
How to Make a Field invisible in Odoo 17Celine George
It is possible to hide or invisible some fields in odoo. Commonly using “invisible” attribute in the field definition to invisible the fields. This slide will show how to make a field invisible in odoo 17.
Synthetic Fiber Construction in lab .pptxPavel ( NSTU)
Synthetic fiber production is a fascinating and complex field that blends chemistry, engineering, and environmental science. By understanding these aspects, students can gain a comprehensive view of synthetic fiber production, its impact on society and the environment, and the potential for future innovations. Synthetic fibers play a crucial role in modern society, impacting various aspects of daily life, industry, and the environment. ynthetic fibers are integral to modern life, offering a range of benefits from cost-effectiveness and versatility to innovative applications and performance characteristics. While they pose environmental challenges, ongoing research and development aim to create more sustainable and eco-friendly alternatives. Understanding the importance of synthetic fibers helps in appreciating their role in the economy, industry, and daily life, while also emphasizing the need for sustainable practices and innovation.
1. Disorders of Amino acid
metabolism
By-lovnish Thakur
ASU2014010100099
Integrated Biotech
4th sem
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
5. 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
6. 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
7. 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
9. 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
10. 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)
11. 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.
13. 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
14.
15. 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.
16. 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
18. 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.
19. 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
21. 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.
22. 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
24. 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)
