ALKAPTONURIC ARTHROPATHY:- A RARE ENTITY Hemant Kumar†, Sagar Tyagi†, Parveen Hans†, Prof .Virinder Mohan* Department of Radiodiagnosis, Rohilkhand Medical college, Bareilly, (U.P.) India ABSTRACT Alkaptonuria is a metabolic disorder of tyrosine and phenylalanine metabolism in which there is absence of homogentisic acid oxidase whose deficiency leads to excessive accumulation of homogentisic acid in urine resulting in black color of urine on standing.[1] The disease is usually diagnosed in adults but a few cases in childhood have been noted because of black discolouration of diapers. Homogentisic acid thus accumulates in cells and body fluids and its oxidized polymers bind to collagen leading to progressive deposition of grey to bliuish black pigment which leads to degenerative changes in cartilage, …show more content…
Osteoarthritis can be treated symptomatically as for other osteoarthritis, surgical intervention is seldom required. Treatment with ascorbic acid (Vit C) and dietary restrictions of food containing phenylalanine and tyrosine have proved to be successful in alleviating the symptoms. CONCLUSION Alkaptonuria, ochronosis, and arthritis, represents a clinical entity which has its genesis in a rare metabolic anomaly. Extensive calcification of the intervertebral discs with ankylosis of the spine are typical radiographic findings. Similar calcifications also occur in tendon sheaths, bursal sacs, and in synovial membranes. A case of this disease is recorded, in which the diagnosis of alkaptonuria was made from the radiographs and confirmed by urine examination, which turned black after it was left in open for long
3. Partial thickness articular surface tear of the remaining portion of the supraspinatus tendon and infraspinatus tendon and subscapularis tendinopathy. 4. Severe osteoarthritis of the glenohumeral and acromioclavicular joint.
CURES report was reviewed. Last urine drug screen on 12/04/14 was appropriate. On examination, there is tenderness upon palpation over right medial knee joint line. Mild atrophy of right medial quadriceps muscle is noted.
All matter is made of particles called atoms. An atom is smallest unit of matter. A matter can be solid, liquid or gas. When a group of atoms bond together this makes a molecule. The molecule is the base of chemical compounds that is involved in chemical reactions.
Task 8.1b- disorders and dysfunctions of the musculoskeletal system Osteoarthritis Osteoarthritis is the most common arthritis. It is an incurable condition which affects your joints. The surface within the joints become joints become damaged which stops the joints moving smoothly. [1] The symptoms of this are: o Pain and stiffness o Swelling o Not being able to move the joint normally o A grating/grinding feeling
Gait Markedly antalgic. Equivocal Romberg. DTRs 2+ in the upper extremities and knees, trace at the ankles. Labs/Studies CAT scan and C-spine are as noted
357–358). Bright’s Disease is characterized by a change in the permeability of the glomerulus, which allows proteins to pass through and since the nephron has no way of reabsorbing proteins they are passed into the urine (Giuseppe et al., 2002,
There are two types of calcium deficiency. Dietary calcium deficiency is caused by inadequate calcium intake, which can lead to depleted calcium stores in the bones, thinning and weakening of the bones, osteopenia and osteoporosis. Hypocalcemia is a low level of calcium in the blood that can occur from taking medications, medical treatments or diseases, such as renal failure or rickets. Many published studies show that low calcium intake throughout life is associated with low bone mass and high fracture rates, in addition to hypertension and cardiac arrhythmias. Other associate signs and symptoms include muscle spasms, tingling,
Clinical Orthopaedics and Related Research®, 471(4),
Alkaptonuria Ashley Thompson Grand Canyon University Alkaptonuria Alkaptonuria (AKU), which is commonly known as the black urine disease, is a very rare autosomal recessive disorder that occurs due to the mutation in the Homogentisate 1,2 Dioxygenase Gene (HGD). The HGD gene is what provides interactions for the making of the enzyme called homogentisic acid oxidase (HGAO). HGAO is the enzyme that helps by breaking down the amino acids tyrosine and phenylalanine. Tyrosine is known as a non-essential amino acid with a polar side group and it has a special role to the phenol functionality. Tyrosine appears in the proteins that are a part of signal transduction processes.
A few people may know about osteoarthritis and others may not. Osteoarthritis makes it difficult to carry out day to day activities. There are leading key points of osteoarthritis that will help gain understand and cope osteoarthritis better. The three leading key points are symptoms of osteoarthritis, causes of osteoarthritis, and living with osteoarthritis. Symptoms of osteoarthritis can affect your mobility.
Osgood-Schlatter Disease Osgood-Schlatter disease is an inflammation of the area below your kneecap called the tibial tubercle. There is pain and tenderness in this area because of the inflammation. It is most often seen in children and adolescents during the time of growth spurts. The muscles and cord-like structures that attach muscle to bone (tendons) tighten as the bones are becoming longer. This puts more strain on areas of tendon attachment.
Despite what we think about when we hear “arthritis,” the truth is that it’s almost impossible to paint just one picture to explain what it looks like. There are over one hundred varieties of arthritis, and anybody can get the diagnosis at any time. To me, that’s a scary statistic, especially when we consider an “old person’s” disease can affect someone as young as ten years old. For many people, arthritis is not the bone spurs or the incredible pain that crosses over them when they move their body.
recognized as a clinical entity. First identified by the Egyptians in 2640 BC, podagra (acute gout occurring in the first metatarsophalangeal joint) was later recognized by Hippocrates in the fifth century BC (Schwartz, 1886), who referred to it as 'the unwalkable disease '. Some of Hippocrates ' remarkable clinical perceptions in relation to gout are preserved in aphorisms, which are as true today as they were 2500 years ago (Galen et al., 1929). Hippocrates also noted the link between the disease and an intemperate lifestyle, referring to podagra as an 'arthritis of the rich ', as opposed to rheumatism, an arthritis of the poor. Six centuries later, Galen was the first to describe tophi, the crystallized monosodium urate deposits that can follow longstanding hyperuricemia.
Introduction 1.1 Aim: To determine the kinetic parameters, Vmax and Km, of the alkaline phosphatase enzyme through the determination of the optimum pH and temperature. 1.2 Theory and Principles (General Background): Enzymes are highly specific protein catalysts that are utilised in chemical reactions in biological systems.1 Enzymes, being catalysts, decrease the activation energy required to convert substrates to products. They do this by attaching to the substrate to form an intermediate; the substrate binds to the active site of the enzyme. Then, another or the same enzyme reacts with the intermediate to form the final product.2 The rate of enzyme-catalysed reactions is influenced by different environmental conditions, such as: concentration
The reaction that occurs can be investigated via the adding of the liver extract which contains the arginase to urea concentrations and distilled water. The amount of urea formed is determined via spectrophotometric analysis α-INPP. The urea produced was known via the color reaction with the α-INPP, it is the reagent used for the colorimetric determination of urea. (Barry J, et al. 1984). The red color formed when the α-INPP is reacted with the urea, is sensitive to light thus it is photo labile.