Albinism:
It involves a spectrum of clinical syndromes characterized through hypomelanosis that is reduced synthesis of melanin pigment in skin and eyes. The defect is in the enzyme tyrosinase that is accountable for the biosynthesis of the pigment and therefore the individual appears bleached. In this circumstance, melanin is not synthesized in the melanocytes and influences the skin, hair, sclera and choroids etc. Melanin is synthesized from tyrosine as displayed in the below figure.
Diagram: Synthesis of melanin from tyrosine
Usually, two types of albinism are observed. That is
1. Oculo-cutaneous albinism:In this type of albinism, there is decreased pigmentation of skin and eyes,
2. Ocular albinism:In this type of albinism, there is decreased pigmentation of just only eyes and not the skin.Alkaptonuria:
This is an uncommon inborn fault of metabolism of phenylalanine and tyrosine. Approximate occurrence is 2-5 per million live births.
Cause:
The disease is characterised through the deficiency of homogentisate oxidase that catalyses the translation of tyrosine to acetyl coA and acetate. Within this reaction sequence homogentisic acid (homogentisate) is an intermediate that is oxidised through the enzyme homogentisate oxidase. This effects in the accumulation of homogentisic acid as displayed in the below figure.
Figure: Role of homogentisate oxidase in tyrosine catabolism
Symptoms:
Homogentisic acid builds up in the tissues and blood and as well appears in urine. Very much striking clinical manifestation is incidence of dark urine on standing in air. Homogentisic acid such as several derivatives of tyrosine is readily oxidized to black pigments. These pigments are known as alkaptons. In an exposed air Urine slowly turns black from top to bottom.
In the cases of long standing, deposition of homogentisic acid derivatives in cartilages of ears and another exposed places leading to generalized pigmentation of connective tissues and deposition in joints leading to arthritis, a condition is known as ochronosis. This is because of the of oxidation homogentisate through polyphenol oxidase, creating benzoquinone acetate that polymerizes and binds to connective tissue macromolecules.
Latest technology based Biology Online Tutoring Assistance
Tutors, at the www.tutorsglobe.com, take pledge to provide full satisfaction and assurance in Albinism homework help via online tutoring. Students are getting 100% satisfaction by online tutors across the globe. Here you can get homework help for Albinism, project ideas and tutorials. We provide email based Albinism homework help. You can join us to ask queries 24x7 with live, experienced and qualified online tutors specialized in Albinism. Through Online Tutoring, you would be able to complete your homework or assignments at your home. Tutors at the TutorsGlobe are committed to provide the best quality online tutoring assistance for Biology homework help and assignment help services. They use their experience, as they have solved thousands of the Biology assignments, which may help you to solve your complex issues of Albinism. TutorsGlobe assure for the best quality compliance to your homework. Compromise with quality is not in our dictionary. If we feel that we are not able to provide the homework help as per the deadline or given instruction by the student, we refund the money of the student without any delay.
Vascular Cambium and Cork Cambium tutorial all along with the key concepts of Introduction to Vascular Cambium, Introduction to Cork Cambium and Economic significance of Cork Cambium
motion under gravity tutorial all along with the key concepts of concept of projectile, motion of projectile, vertical and horizontal projections, resultant velocity of a projectile, projection at an angle to the horizontal and applications of projectiles
Differential Calculus tutorial all along with the key concepts of Partial Derivatives, Exact Differential, Implicit Differential, Product of Three Partial Derivatives, Chain Rule of Partial Derivatives, Second Derivatives or Second Order Derivatives
tutorsglobe.com bryophytes assignment help-homework help by online biodiversity tutors
tutorsglobe.com physiology of senescence assignment help-homework help by online senescence tutors
Want a trustworthy CAD and CAM Assignment Help Service within your budget? Get contact with our PhD tutors and score A++ at feasible prices.
The usual Defects in Brushes and Brush Gear Areas are as follows - Not correct grade of brush and improper brush tension, Not proper bedding of brushes.
tutorsglobe.com submerged hydrophytes assignment help-homework help by online hydrophytes tutors
tutorsglobe.com electric kettle assignment help-homework help by online water heaters tutors
elements of group 17 tutorial all along with the key concepts of occurrence, extraction and uses of group 17, preparation of fluorine, physical properties of group 17, oxidation states and oxidation power
tutorsglobe.com software testing assignment help-homework help by online software engineering tutors
Combined First and Second Law tutorial all along with the key concepts of T and V Independent, P and V Independent, infinitesimal reversible process, thermodynamics relations, dependence of enthalpy on pressure
Monocotyledons and Dicotyledons tutorial all along with the key concepts of Number of cotyledons, Pollen structure, Number of flower parts, Leaf veins, Stem vascular arrangement and Root development
tutorsglobe.com sphygmomanometer assignment help-homework help by online medical lab methods tutors
tutorsglobe.com blood cells assignment help-homework help by online circulation tutors
1946553
Questions Asked
3689
Tutors
1464804
Questions Answered
Start Excelling in your courses, Ask an Expert and get answers for your homework and assignments!!