Publish Your Research Online
Get Recognition - International Audience
Request for an Author Account | Login | Submit Article
|HOME||FAQ||TOP AUTHORS||FORUMS||PUBLISH ARTICLE|
Biochemical Disorders and DiseasesBY: Zandro Cabaral | Category: Genetics | Submitted: 2011-02-24 20:58:34
Article Summary: "The different biological process in the body, when disturbed would result in different metabolic disorders..."
Chronic Granulomatous Disease is the deficiency of NADPH oxidase. This is the enzyme responsible for the infection-armory of the cells called the Respiratory burst. The absence or the deficiency of this enzyme results in susceptibility to chronic pyogenic infections since there is no respiratory burst. People with CGD usually experience recurrent infections usually from Beta hemolytic Streptococcus bacteria.
Insulin deficiency results in Diabetes Mellitus that result in increased glucose level, glocusoria or presence of sugar in the urine and increase ketone levels. Galactosidase deficiency is a deficiency in the enzyme galactokinase. It is an autosomal recessive disease, resulting in increased galactose in the urine.
There are also diseases which are due to a disorder in the body amino acid components. These amino acids are the building blocks of protein in the body.
Homocystinuria is characterized by increased urine levels of homocystine. Maybe treated with dietary Vitamin B6 (pyridoxine) and cysteine. The disease is due to the inability of the body to methylate homocysteine into methionine. Homocysteine is oxidized into homocystine. Deficiency of cystathionine synthetase enzyme is the culprit for the disorder.
Phenylketonuria results from a deficiency of phenylalanine hydroxylase enzyme. The patient must eliminate phenylalanine from the diet. Tyrosine must be supplied in the diet since it cannot be made from phenylalanine. Neonatal screening test: Guthrie Test may show false negative if done at birth. Alkaptonuria is the deficiency of homogentisate oxidase enzyme which causes darkened urine when standing.
The body eliminates Urea to the urine through the Urea Cycle. In some cases, some of the enzymes involved in the cycle are deficient causing metabolic disorders.
Carbamoyl phosphate synthetase deficiency causes hyperammonemia. Omithine transcarbamoylase deficiency causes hyperammonemia, as well as orotic aciduria. Citrullinemia is a deficiency of argininosuccinate synthetase causes increased citrulline level. Argininemia deficiency of argininosuccinase causes argininosuccinate in the urine.
Another Biologic disorder is the Maple Syrup Urine Disease. This disease was named because of the "sweet urine." This disease is due to the deficiency of keto-acid (branched-chain) dehydrogenase.
There are also diseases which are due to the defect in the Glycogen storage. These are the following:
VON GIERKE'S (TYPE I GSD)
- Deficiency of glucose-6-phosphatase, Hepatomegaly is seen.
POMPE'S (TYPE II GSD)
- Deficiency of α-1.4-glucosidase and lysosomal acid maltase (a debranching enzyme),
- Cardiomegaly, restrictive cardiomyopathy, occurs as the heart stores glycogen
- Deficiency of the debranching enzyme, amylo-1.6-glucosidase,
- Effects limit dextrin conversion to glucose
MCARDLE'S (TYPE V GSD)
- Deficiency of muscle phosphorylase,
- Increased glycogen since can't breakdown glycogen to glucose
- There is weakness and cramps in the muscle
- Deficiency of liver phosphorylase
- Increased glycogen
PHOSPHORYLASE B KINASE DEFICIENCY
- Deficiency of liver phosphorylase b kinase
- Increased glycogen due to inability to activate to the Phosphorylase A
Lipid storage is also an important cycle in the body. Here are some Lipid Storage Diseases:
- Mutated LDL receptors that reduce binding of LDL
- Increased level of cholesterol
FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
- Deficiency of lipoprotein lipase
- Increased levels of chylomicron triglyceride
FAMILIAL LCAT DEFICIENCY
-Deficiency of lecithin: cholesterol acyltrasnferase
- Defective HDL synthesis
- Elevated cholesterol in tissue and decreased plasma HDL level
- Deficiency of Apo E3
- Defective synthesis of Apo B-lipid complex
Lysosomes have hydrolytic enzymes important in the body's metabolism. When these enzymes decrease, there is an accumulation of sphingolipids and sulfate which cause diseases. Here are some of those diseases:
- X-linked recessive deficiency of iduronosulfate sulfate
- This causes an increase of dermatan and heparan sulfate
- Causes mental and physical retardation
- Autosomal recessive deficiency of α-L-iduronidase
- Causes clouding of the cornea, joint degeneration, and heart disease
- Doest NOT cause retardation
- Deficiency of α-L-iduronidase
- Increased dermatan and heparan sulfate
- Causes clouding of the cornea, mental and physical retardation and early death
- This increases heparan sulfate
- Causes severe mental retardation
- Type III mucopolysaccharidosis
- Defective β- gangiliosidase A
Tay - Sachs disease
- Deficiency of hexosaminidase A
- Increased GM2-gangliosides
- This disease is associated with Ashkenazi (Eastern European)
- Jews and macular cherry-red spot
- Causes retardation and early death
- Deficiency of glucocerebrosidase
- Increased glucocerebrosides
- Deficiency of sphigomyelinase
- Increased sphingomycelin
- This associated with severe mental retardation and early death
- Deficiency of α-galactocerebrosidase A
- Increased ceramide trihexosides
- This is the only sex-linked recessive sulfatidosis
At present, scientists around the world are still doing research on finding cure for these disorders. However, detecting these disorders earlier can be done by performing the Newborn Screening 24-48 hours after birth.
About Author / Additional Info:
Comments on this article: (0 comments so far)
• Garlic : The Bulb of Wonder
• Next Generation Sequencing (NGS): The Next Step in Personalized Medicine
• Natural Growth Hormone: IAA (Indole-3-Acetic Acid)
• ISO-9000 Requirments, Effectiveness and Advantages
Latest Articles in "Genetics" category:
• The Science and History of Genetics. How It Predicts the Genetic Code
• Telomeres: Is It Responsible For Ageing and Cancer?
• Human Genetic Engineering,its Methods and Ethics
• Gene Mutation And Cancer
• DNA Technology Used in Forensics
• DNA Fingerprinting: Uses and Methods Involved
• Treatment of Genetic Diseases by Gene Therapy
• Human Intelligence and Genetics
• Ethical Issues Related to Human and Animal Cloning
• Mitochondrial DNA and Forensic
• DNA Footprinting and Gene Sequencing
• Biotechnology and Types of Cloning
• Designer Babies:Method and Ethical Issues
• Prenatal Diagnosis: Non-invasive and Invasive Techniques
• What are the Benefits of Genetic Engineering?
• The Advantages and Disadvantages of Genetic Engineering in Humans
• Types of Genetic Disorders
• Bovine Somatotropin: A Growth Hormone
• Advantages and Disadvantages of Genetically Modified Food
Important Disclaimer: All articles on this website are for general information only and is not a professional or experts advice. We do not own any responsibility for correctness or authenticity of the information presented in this article, or any loss or injury resulting from it. We do not endorse these articles, we are neither affiliated with the authors of these articles nor responsible for their content. Please see our disclaimer section for complete terms.
Copyright © 2010 biotecharticles.com - Do not copy articles from this website.
ARTICLE CATEGORIES :
| Disclaimer/Privacy/TOS | Submission Guidelines | Contact Us