Where did alkaptonuria come from?

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Cause of alkaptonuria The condition results from an inherited mutation in the homogentisate 1,2-dioxygenase (HGD) gene. This condition is inherited in an autosomal recessive pattern, in which a mutation must be inherited from each parent to cause the condition.

What is the history of alkaptonuria?

Garrod’s research, which can be seen in the paper titled “The Incidence of Alkaptonuria: A Study in Chemical Individuality”, was published in 1902. For his research, Garrod collected patients’ familial information and examined the homogentisic acid (HGA) content of their urine samples.

What is alkaptonuria and how can it affect you?

This can turn urine and parts of the body a dark colour and lead to a range of problems over time. Amino acids are usually broken down in a series of chemical reactions. But in alkaptonuria, a substance produced along the way, homogentisic acid, cannot be broken down any further.

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What gene is involved in alkaptonuria?

The gene involved in alkaptonuria is the HGD gene. This provides instructions for making an enzyme called homogentisate oxidase, which is needed to break down homogentisic acid. You need to inherit two copies of the faulty HGD gene (one from each parent) to develop alkaptonuria.

What is alkaptonuria (black urine)?

Alkaptonuria is an inherited condition, present since birth. However, during infancy only the symptom of black urine may be noted. In infants, the diaper with urine, when exposed to air, may appear dark. If allowed to remain for few hours it may even turn black. Sometimes, this typical feature may not be easily evident in all patients.

Alkaptonuria, Causes, Signs and Symptoms, Diagnosis and Treatment.

More about Where did alkaptonuria come from?

1. Alkaptonuria | Genetic and Rare Diseases Information Center …

44 rows · Mar 18, 2016 · Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and arthritis of the spine and larger joints. Ochronosis starts after age 30 and arthritis in early …

From rarediseases.info.nih.gov

3. Alkaptonuria | Osmosis

Alkaptonuria is a rare autosomal recessive genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, leading to accumulation of an intermediate substance called homogentisic acid in the blood and tissues.

From www.osmosis.org

4. Alkaptonuria – NHS

Alkaptonuria. 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. This can turn urine and parts of the body a dark colour and lead to a range of health problems over time.

From www.nhs.uk

5. The Discovery of Alkaptonuria: A Basis for Medical Genetics

Apr 01, 2014 · The Discovery of Alkaptonuria: A Basis for Medical Genetics. April 1, 2014 by lrodgers93. The discovery of Alkaptonuria and its method of inheritance is accredited to Sir Archibald E. Garrod (pictured at the left), an Engish physician, who was born on November 25, 1857 in London, England. From a very early age, Garrod was directly exposed to the field of …

From lrodgers93.wordpress.com

6. Alkaptonuria: Treatment, Prevention, Symptoms, Causes

Dec 21, 2018 · Alkaptonuria is a genetic disorder, caused by defect in a gene responsible for breakdown of certain parts of proteins. The gene named HGD, controls and provides information to produce an enzyme called homogentisate oxidase.

From www.epainassist.com

8. Alkaptonuria: Treatment, Procedure, Cost and Side Effects – Lybrate

Jul 16, 2019 · Alkaptonuria, also known as the Black Urine Disease, is an unusual inherited disorder where the body becomes unable to produce Homogentisic Dioxygenase (HGD) enzyme resulting in accumulation of homogentisic in your body. As a result of this, your bones and cartilage become fragile and discolored. Early symptoms of Alkaptonuria involve discoloration …

From www.lybrate.com

9. (PDF) Genetics of alkaptonuria – an overview

May 01, 2015 · Alkaptonuria (AKU) is an autosomal recessive disorder; caused by the mutations in the homogentisate 1, 2-dioxygenase (HGD) gene located on Chromosome 3q13.33. AKU is a rare disorder with an …

From www.researchgate.net

10. Inheritance: How is Alkaptonuria inherited? – ThinkGenetic

Alkaptonuria is inherited in an autosomal recessive manner. This means that both copies of the gene have to have changes for the person to show signs and symptoms of the disease. If only one copy of the gene has a change, the person is a carrier for Alkaptonuria and does not have the condition. References

From thinkgenetic.com

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