What are Alkapton bodies?

a class of substances with an affinity for alkali, sometimes found in the urine and causing the condition known as alkaptonuria. The urinary formation of alkaptons results from the incomplete oxygenation of tyrosine and phenylalanine.

What is Alkapton urea?

Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.

What enzyme is deficient in alkaptonuria?

Alkaptonuria is an autosomal recessive disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. This enzyme deficiency results in increased levels of homogentisic acid, a product of tyrosine and phenylalanine metabolism.

What causes alkaptonuria disease?

Alkaptonuria is caused by mutation of the homogentisate 1,2-dioxygenase (HGD) gene. The HGD gene contains instructions for creating (encoding) an enzyme known as homogentisate 1,2-dioxygenase. This enzyme is essential for the breakdown of homogentisic acid.

What Black Pee means?

Dark urine is most commonly due to dehydration. However, it may be an indicator that excess, unusual, or potentially dangerous waste products are circulating in the body. For example, dark brown urine may indicate liver disease due to the presence of bile in the urine.


[KEY]Which disease has Alka contracted?[/KEY]

Other names Black urine disease, black bone disease, alcaptonuria
Pigmentation of the face in alkaptonuria
Specialty Endocrinology


Why do bones become black?

The buildup of homogentisic acid causes your bones and cartilage to become discolored and brittle. This typically leads to osteoarthritis, especially in your spine and large joints. People with alkaptonuria also have urine that turns dark brown or black when it’s exposed to air.

What is an AKU patient?

Alkaptonuria (AKU) is considered a rare autosomal recessive condition that results in an accumulation of homogentisic acid in body tissues and causes long-term clinical, neurological and psychological complications.


[KEY]What chromosome is Alkaptonuria located on?[/KEY]

On chromosome 3 there’s a gene with a special role in the history of genetics. It’s a gene associated with a disease called alkaptonuria, which turns urine black and earwax red. In 1902, Archibald Garrod noticed that this gene runs in families.


[KEY]What causes phenylketonuria?[/KEY]

PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.


What color is urine with liver problems?

Urine that is dark orange, amber, cola-coloured or brown can be a sign of liver disease. The colour is due to too much bilirubin building up because the liver isn’t breaking it down normally. Swollen abdomen (ascites).

Is peeing dark yellow bad?

Dark Yellow to Orange Dark yellow urine might indicate that you have a severe infection, an underlying kidney condition or it could additionally mean that you are dehydrated: Temporary conditions or medication affecting the liver and kidneys can also sometimes cause this effect.

What colour is diabetic urine?

Diabetes can cause cloudy urine when too much sugar builds up in your urine. Your urine may also smell sweet or fruity. Diabetes can also lead to kidney complications or increase risk of infections of the urinary tract, both of which can also make your urine appear cloudy.

How is MSUD treated?

The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs).

How do you get MSUD?

Maple syrup urine disease (MSUD) is inherited, which means it is passed down through families. It is caused by a defect in 1 of 3 genes. People with this condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.

How do you test for MSUD?

When symptoms show up after the newborn period, diagnosis of MSUD can be made by a urine analysis or blood test. A urine analysis can detect a high concentration of keto acids, and a blood test can detect a high level of amino acids.

What causes blue ears in humans?

The “blue ear drum” generally refers to a condition in which blood or blood products are found in the middle ear. After all possible causes for hemotympanum, including blood dyscrasias and trauma are searched for and ruled out, the patient may have chronic serous otitis media accompanied by bloody effusion.

What causes homogentisic acid?

A defect in the HGD gene causes alkaptonuria. The gene defect makes the body unable to properly break down certain amino acids (tyrosine and phenylalanine). As a result, a substance called homogentisic acid builds up in the skin and other body tissues.

How is Shay disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

Is it possible to have black bones?

The Ayam Cemani chicken’s jet black pigment is caused by a genetic mutation called fibromelanosis. It’s one of four chicken breeds that have this rare dark coloring.


[KEY]Is Alkaptonuria fatal?[/KEY]

Alkaptonuria patients develop arthritis and often suffer from other diseases too, including cardiovascular and kidney disease. Fatal alkaptonuria cases are infrequent, and death often results from kidney or cardiac complications.


How many types of Tyrosinemia are there?

There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life.


[KEY]What is Benedict test used for?[/KEY]

Benedict’s Test is used to test for simple carbohydrates. The Benedict’s test identifies reducing sugars (monosaccharide’s and some disaccharides), which have free ketone or aldehyde functional groups. Benedict’s solution can be used to test for the presence of glucose in urine.


What happens in a Benedict’s test?

In lab, we used Benedict’s reagent to test for one particular reducing sugar: glucose. Benedict’s reagent starts out aqua-blue. As it is heated in the presence of reducing sugars, it turns yellow to orange. The “hotter” the final color of the reagent, the higher the concentration of reducing sugar.

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