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. Whereas phenylalanine is more of an essential amino …show more content…
Homogentisic acid is produced in the body from the improper breakdown of tyrosine and phenylalanine in the body. The excess homogentisic acid accumulates in the blood and also in the connective tissues such as cartilage and this happens in a great amount around the joints. The accumulation of blood leads to development of ochronosis, arthritis, heart issues discoloration of the skin in certain areas and many more complications that are seen in patients with AKU. In basis terms AKU is a disorder that results from the improper breakdown of tyrosine and phenylalanine because there is a deficiency of the enzyme HGAO. The gene that encodes the HGD enzyme was cloned in 1996 that is when they opened the era of molecular genetics of AKU. We now know that HGD gene consists of 14 eons (which are the coding parts of the gene) and 13 introns (which are the non-coding parts of the gene). The HGD gene has a tissue specific expression, particularly in the liver, kidneys, small and large intestines, prostate and the brain. Increased activity in the liver and kidneys has been attributed to metabolic activity of these organs in the …show more content…
When this happens the urine will turn a dark blue-black color when it is exposed to air. Therefore it may not look abnormal as soon as it exits the body but actually turns colors if it sets for a period of time so that it is exposed to air to express the blue black color. Researchers define a high urinary level of homogentisic acid as being greater than four to eight grams in a twenty four hour period. With children dark staining in the diapers is a sign that homogentisic acid is present and being excreted and this can indicate that the child may have the AKU disorder. It is important to note that many patients do not show many signs and do not become aware of their disorder until they are in their third or fourth decade of life. There have been research studies that show that males have a tendency to have an earlier onset or the arthritic symptoms than females do, the difference in timing is unclear but may be due to the fact that males have a tendency to do more laboring work throughout their lifespan than women do in most
When your body is too acidic over a long time, it leads to many diseases like obesity, arthritis, bone density loss, high blood pressure, heart disease and stroke. The list is endless, because the body simply gives up the battle for vitality and goes into survival mode as long as it can. An alkaline diet is unique. Many diets focus on the same foods that cause you to be overweight or sick in the first place.
The cause is passed down from mother to son through the X link chromosome making this disease affect the male child.
PKU is a recessive allele that in most parents is overpowered by the dominant allele preventing PKU. Phenylketonuria is a genetic disorder in which a person’s body does not contain the enzyme that is necessary to break down an important amino acid found in protein called phenylalanine. As a result, some of the symptoms of this disease include the following: fair skin and hair due to lack of melanin synthases, dry skin patches or Eczema, light sensitivity, and hair loss. Some of the more serious symptoms of PKU are intellectual disabilities, 50% increase in epilepsy, and eye abnormalities. PKU is a disease that if treated early on, the diseases symptoms can be less serious.
This process uses platelets and causing a shortage in the rest of their body. This abnormal reaction can be caused by a chemical is not identified but which is produced in the blood plasma (the liquid part of the blood and non-cellular). The trigger events for the hemolytic uremic syndrome are various, the syndrome can then be: o enterohemorrhagic, whether caused by Escherichia coli o triggered by pneumonia caused by the bacterium Streptococcus pneumoniae o associated with use of certain drugs o associated with
Mutations in ATP7B gene lead to an abnormal ATPase protein which is incapable of removing excess copper leading to its accumulation in different tissues. So far 500 mutations have been reported [9]. The consequences can be very fatal, if not diagnosed and treated properly as it can lead to irreversible damage to brain and liver
Adrenoleukodystrophy is a type of genetic condition brought about by the lack of the functional organelle peroxisomes. ALD damages the membrane that wraps around the nerve cells in the brain. Adrenoleukodystrophy, or ALD, is a deadly disease that is estimated to affect 1 in 17,000 newborns, and starting in 2015, some states in the U.S. have added a simple blood test to detect ALD at birth. It affects boys and men. ALD is most apparent in children between the ages of four and ten.
It found in higher amounts it indicates high blood sugar levels from spillage or kidney damage. 8. Nitrates: Nitrates in urine indicate the presence of a UTI that is caused by a bacteria that makes an enzyme turn urinary nitrates into nitrates. 9. Bilrubin: This is not normally found in urine it is a waste product of the liver and is a component of bile.
Zachary Morello Writing 120 12/16/15 Period 7 Menkes Disease Menkes disease is a X chromosome linked disease, that is caused by an affected ATP7A gene. Menkes disease is more common in males, because they only need one copy of the recessive gene in order to have the disease, while females require two copies of the gene to get the disease. The ATP7A gene is responsible for the synthesis of a protein that is responsible for transporting copper throughout the body, except for the liver. The ATP7A protein helps control absorption of copper from food, and is normally found in the Golgi apparatus, an organelle found in most eukaryotic cells.
In the first stage in the normal body, vitamin B12 binding proteins that found in saliva to enters the stomach. Then the stomach uses hydrochloric acid to liberate vitamin B12 from the proteins. However, in the first stage of pernicious anemia, the stomach excretes a small amount of hydrochloric acid. This leads to a failure of separate vitamin B12 from food proteins, which inhibit vitamin B12 from absorption. In addition, the lack of secretion of hydrochloric acid provides a suitable environment for a reproduction of gut bacteria.
“Protein Substitutes for children and adults diagnosed with Phenylketonuria” (Intro): Phenylketonuria, which is commonly known as PKU, is usually caused from an inherited gene, passed down from both parents, that increases the levels of phenylalanine in the bloodstream. Phenylalanine is the building block of proteins that is obtained through the diet. Phenylalanine is found in all protein food sources and even some artificial sweeteners. This disorder is very important because if it is not treated, it could lead up to intellectual disability and other serious health problems. Nutritional supervision is very important when dealing with PKU because of the need to improve patient’s growth, development, and diet obedience.
When a liver cell is damaged the enzyme aspartate aminotransferase (AST), which is stored in the cytosol and mitochondria of liver cells, is released from the cell into the blood. (Mayo Clinic
There are related cases of familial ureterocele, renal agenesis, hypodysplasia, renal tubular dysgenesis, multicystic dysplastic kidney (MCDK), or VUR (34, 35, 36, 37,38). The phenotype often does not follow the classic Mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. The observations that diverse forms of CAKUT occur in the same family suggest that specific genetic mutations can potentially lead to CAKUT, but the final renal system phenotype depends on either genetic background or environmental factors (1,3). 1.1 Ureterocele is an example of CAKUT. It is a cystic out-pouching of the distal ureter into the urinary bladder (34,39) (IMAGE 1-3).
20 Percent Kidney Function The kidneys are a pair of organs that help remove wastes from the body and maintain internal balance. When kidney disorder occurs, these functions may be compromised. People who only have 20 percent kidney function remaining may face renal failure, an end-stage kidney dysfunction which can be life-threatening. To avoid this, patients must consult a nephrologist, who is a kidney specialist to get proper treatment and advice.
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,
It is normal for our bodies to produce uric acid, which is expected to be excreted from our bodies. They can be passed out through urine or gut