AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
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
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.
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
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.
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’’
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.
IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
designed for undergraduate level teaching of nitrogen metabolism focusing on amino acid metabolism in biochemistry. this is second in the series of three lectures. ideal for MBBS level teaching
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’’
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.
IEM comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product.
designed for undergraduate level teaching of nitrogen metabolism focusing on amino acid metabolism in biochemistry. this is second in the series of three lectures. ideal for MBBS level teaching
inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
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
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
designed for undergraduate level teaching of nitrogen metabolism focusing on amino acid metabolism in biochemistry. this is third in the series of three lectures. ideal for MBBS level teaching
INBORN ERRORS OF METABOLISM, PKU, PHENYLKETONURIA, BY: MR. DINABANDHU BARAD, MSC TUTOR, SUM NURSING COLLEGE, SIKSHA O ANUSANDHAN DEEMED TO BE UNIVERSITY, BHUBANESWAR, ODISHA
The urea cycle is the metabolic pathway that transforms nitrogen to urea for excretion from the body. Liver cells play a critical role in disposing of nitrogenous waste by forming urea hrough the action of the urea cycle.
Nitrogenous excretory products are then removed from the body through in the urine.
The urea excreted each day by a healthy adult (about 30 g) accounts for about 90% of the nitrogenous excretory products.
The cycle occurs mainly in the liver.
INTRODUCTION TO METABOLISM OF PROTEIN AND AMINO ACIDS Rabia Khan Baber
Protein are the important tissue builders in body which it can help in the cell structure, functions, hemoglobin formation to carry oxygen, enzyme for metabolic reaction and other functions in the body. Also in supply the nitrogen for the DNA and RNA genetic materials and the energy production. This is because, protein contain long chain of amino acids
Protein metabolism is the process to breakdown foods are used by During protein metabolism, some of the protein will converted into glucose through gluconeogenesis process.
Protein metabolism denotes the various biochemical processes responsible for the synthesis of proteins and amino acids (anabolism), and the breakdown of proteins by catabolism. ... In humans, non-essential amino acids are synthesized from intermediates in major metabolic pathways such as the Citric Acid Cycle.
Under normal dietary intake the majority of the ingested fructose is metabolized by the enterocytes of the small intestine primarily to glucose which is then delivered to the systemic circulation. In addition to glucose, the carbon atoms from dietary fructose are converted, by intestinal enterocytes, into several other metabolites including glycerate, glutamate, glutamine, alanine, ornithine, and citrulline.
However, diets containing large amounts of sucrose, high fructose corn syrup, or fructose alone, overwhelm the ability of the small intestine to metabolize it all and under these conditions a significant amount of fructose is then metabolized by the liver and to a lesser extent by other organs such as skeletal muscle.
The glucuronic acid pathway is a quantitatively minor route of glucose metabolism. Like the pentose phosphate pathway, it provides biosynthetic precursors and inter-converts some less common sugars to ones that can be metabolized.
A vitamin that can dissolve in water. Vitamins are nutrients that the body needs in small amounts to stay healthy and work the way it should. Water-soluble vitamins are carried to the body's tissues but are not stored in the body.
The pentose phosphate pathway (PPP; also called the phosphogluconate pathway and the hexose monophosphate shunt) is a process that breaks down glucose-6-phosphate into NADPH and pentoses (5-carbon sugars) for use in downstream biological processes. There are two distinct phases in the pathway: the oxidative phase and the non-oxidative phase.
Biosynthesis of pyrimidine nucleotides can occur by a de novo pathway or by the reutilization of preformed pyrimidine bases or ribonucleosides (salvage pathway).
The pyrimidine synthesis is a similar process than that of purines. In the de novo synthesis of pyrimidines, the ring is synthesized first and then it is attached to a ribose-phosphate to for a pyrimidine nucleotide.
Free fatty acids also called unesterified (UFA) or nonesterified (NEFA) fatty acids are fatty acids that are in the unesterified state.
In plasma, longer-chain FFA are combined with albumin, and in the cell they are attached to a fatty acid-binding protein.
Shorter-chain fatty acids are more watersoluble and exist as the un-ionized acid or as a fatty acid anion.
By these means, free fatty acids are made accessible as a fuel in other tissues.
Cholesterol is the major sterol in the animal tissues.
Cholesterol is present in tissues and in plasma either as free cholesterol or as a storage form, combined with a long-chain fatty acid as cholesteryl ester.
In plasma, both forms are transported in lipoproteins
removed from tissues by plasma high-density lipoprotein (HDL) and transported to the liver, where it is eliminated from the body either unchanged or after conversion to bile acids in the process known as reverse cholesterol transport
DNA polymerases are a group of enzymes that are used to make copies of DNA templates, essentially used in DNA replication mechanisms. These enzymes make new copies of DNA from existing templates and also function by repairing the synthesized DNA to prevent mutations. DNA polymerase catalyzes the formation of the phosphodiester bond which makes up the backbone of DNA molecules. It uses a magnesium ion in catalytic activity to balance the charge from the phosphate group.
A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major - from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.
The electron transport chain is comprised of a series of enzymatic reactions within the inner membrane of the mitochondria, which are cell organelles that release and store energy for all physiological needs.
As electrons are passed through the chain by a series of oxidation-reduction reactions, energy is released, creating a gradient of hydrogen ions, or protons, across the membrane. The proton gradient provides energy to make ATP, which is used in oxidative phosphorylation.
NUTRITIONAL DISORDERS AND PROTEIN ENERGY MALNUTRITIONRabia Khan Baber
Nutritional disorder are diseases that occur when a person's dietary intake does not contain the right amount of nutrients for healthy functioning, or when a person cannot correctly absorb nutrients from food. Nutritional disorders can be caused by undernutrition, over nutrition or an incorrect balance of nutrients.
Nutrition is the study of nutrients in food, how the body uses them, and the relationship between diet, health, and disease.
Nutritionists use ideas from molecular biology, biochemistry, and genetics to understand how nutrients affect the human body.
Nutrition is the study of nutrients in food, how the body uses them, and the relationship between diet, health, and disease.
Nutritionists use ideas from molecular biology, biochemistry, and genetics to understand how nutrients affect the human body.
Definitions
Stages and Phases of Normal Labour
Abnormal Patterns of Labour
Classification of Abnormal Labour/Dystocia
Diagnosis and Management of Abnormal Labour
Definitions
Introduction to classification
All fat soluble vitamins
Biosynthesis
Sources of vitamins
Daily dosage
Biochemical function of vitamins
Deficiencies of vitamin
Sign and symptoms
- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
- Video recording of this lecture in Arabic language: https://youtu.be/Ve4P0COk9OI
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
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2. AIMS AND OBJECTIVES OF PPT
To study and understand the disorders of amino acid metabolism.
3. AMINO ACID METABOLISM
DISORDERS
Twenty amino acids, including nine that cannot be synthesized in
humans and must be obtained through food, are involved in metabolism.
Amino acids are the building blocks of proteins; some also function as
or are synthesized into important molecules in the body such as
neurotransmitters, hormones, pigments and oxygen-carrying molecules.
Each amino acid is further broken down into ammonia, carbon dioxide,
and water. Disorders that affect the metabolism of amino acids include
phenylketonuria, tyrosinemia, homocystinuria, non-ketotic
hyperglycinemia, and maple syrup urine disease. These disorders are
autosomal recessive, and all may be diagnosed by analyzing amino acid
concentrations in body fluids
4. WHAT ARE AUTOSOMAL RECESSIVE
DISORDERS ?
Autosomal inheritance of a gene means that the gene is located on one
of the 22 other pairs of chromosomes. This means that boys and girls (or
men and women) are equally likely to have the gene. Recessive means
that you must inherit both copies of the gene in order for you to have the
trait. If you have only one copy of the recessive gene, you won’t have
the trait or the disease. Instead you will be a carrier for the trait or
disease. But you won’t be able to tell that you are a carrier without a
genetic test.
5. HOW DOES AN AUTOSOMAL
RECESSIVE CONDITION LOOK IN A
FAMILY?
It is rare to see any history of autosomal recessive conditions within a
family because if someone is a carrier for one of these conditions, they
would have to have a child with someone who is also a carrier for the
same condition. Most autosomal recessive conditions are individually
rare, so the chance that both people are carriers for the same recessive
genetic condition are likely low.
6.
7. PHENYLKETONURIA (PKU)
PKU is caused by decreased activity of phenylalanine hydroxylase (PAH), an
enzyme that converts the amino acid phenylalanine to tyrosine, a precursor of
several important hormones and skin, hair and eye pigments. Decreased PAH
activity results in accumulation of phenylalanine and a decreased amount of
tyrosine and other metabolites.
FEATURES OF PKU: Persistent high levels of phenylalanine in the blood in
turn result in progressive developmental delay, a small head circumference,
behaviour disturbances, and seizures. Due to a decreased amount of the pigment
melanin, persons with PKU tend to have lighter features, such as blond hair and
blue eyes, than other family members who do not have the disease.
TREATMENT: Follow special formulas and with foods low in phenylalanine
and protein can reduce phenylalanine levels to normal and maintain normal
intelligence
8.
9. TYROSINEMIA
Tyrosinemia is caused by a deficiency of fumarylacetoacetate
hydrolase (FAH), the last enzyme in tyrosine catabolism.
FEATURES: Features of classic tyrosinemia include severe liver
disease, unsatisfactory weight gain, peripheral nerve disease and
kidney defects. Approximately 40 percent of persons with the disorder
develop liver cancer by the age of 5 if untreated.
TREATMENT: Treatment includes a potent inhibitor of the tyrosine
catabolic pathway, prevents the production of toxic metabolites.
Although this leads to improvement of liver, kidney and neurological
symptoms, the occurrence of liver cancer may not be prevented. Liver
transplantation may be required for severe liver disease or if cancer
develops.
10.
11. HOMOCYSTINURIA
Homocystinuria is caused by a defect in β-synthase, an enzyme that
participates in the metabolism of methionine, which leads to an
accumulation of homocysteine.
FEATURES: Features include a pronounced flush of the cheeks, a
tall, thin frame, lens dislocation and osteoporosis. Intellectual
disability and psychiatric disorders also may be present.
TREATMENT: Approximately 50 percent of persons with
homocystinuria are responsive to treatment with vitamin B6
(pyridoxine), and these individuals tend to have a better intellectual
prognosis. Therapy with folic acid, betaine (a medication that removes
extra homocysteine from the body), aspirin, and dietary restriction of
protein and methionine also may be of benefit.
12.
13. NON-KETOTIC HYPERGLYCINEMIA
Non-ketotic hyperglycinemia is caused by elevated levels of the
neurotransmitter glycine in the central nervous system, which in turn
are caused by a defect in the enzyme system responsible for cleaving
the amino acid glycine.
FEATURES: is characterized by seizures, low muscle tone, hiccups,
breath holding and severe developmental impairment.
TREATMENT: Drugs that block the action of glycine (e.g.,
dextromethorphan), a low-protein diet and glycine-scavenging
medications (e.g., sodium benzoate) may ease symptoms, but there is
no cure for this severe condition.
14. MAPLE SYRUP URINE DISEASE(MSUD)
MSUD is a disorder of branched-chain amino acid metabolism that leads to
the accumulation of leucine, isoleucine, valine and their corresponding
oxoacids in body fluids, one result being a characteristic maple syrup smell to
the urine of some patients.
FEATURES: The classic form of MSUD presents in infancy with lethargy
and progressive neurological deterioration characterized by seizures and
coma. Unlike most organic acidemias is rare.
TREATMENT: Treatment involves restricting proteins and feeding with
formulas deficient in the branched-chain amino acids. Persons with MSUD
may have intellectual disability despite therapy, but early and careful
treatment can result in normal intellectual development. Milder forms of
MSUD may be treated with simple protein restriction or administration of
thiamin (vitamin B1).
15. REFERENCES
Text book of medical biochemistry, MN Chatterjee
Fundamentals of Biochemistry
Britanicca