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Alkaptonuria, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Alkaptonuria is an unusual condition skilled by someone when there's a accumulation of homogentisic acid in the body. Consequently, pee or some components of the body appearance dark or black in time, triggering a variety of health issue.

Alkaptonuria is a congenital disease acquired from moms and dads. Signs of this illness are often disregarded initially and just noticeable after the patient gets to the age of the late 20s or very early 30s. This occurs because the accumulation of acid homogentisate occurs gradually. Consequently of the build-up of these compounds, cartilage, ligaments, bones, nails, or ears become dark or blackish in color. Alkaptonuria patients can still live normally, although their lifestyle can be disrupted because of problems with joint discomfort or heart problems.

Alkaptonuria, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications


Symptoms of Alkaptonuria
 

Signs of alkaptonuria can occur from early stage, although often these signs are disregarded because at first, they are not plainly noticeable. At the moment of the baby, the initial signs are usually marked by black spots on the baby's baby diaper. Signs show up more clear as you age, particularly in the eyes, ears, nails or skin, and various other body body organs. These signs consist of:

  • Signs of nails and skin, through staining of sweat, nails transform blue, and skin color changes, particularly on the temple, cheeks, underarms, and genital location.
  • Signs in the eye, through brownish or grey spots on the white component of the eye.
  • Signs in the ear, through ear cartilage, become blackish blue (ochronosis), and earwax becomes black or red brownish.
  • Very early signs of osteo arthritis, such as discomfort or stiffness in the joints and spinal column, shoulders, hips or knees. These signs typically start to show up from the age of 20 or thirty years.
  • Various other signs, consisting of shortness of breath or problem taking a breath, capillary become rigid and weak, heart shutoff illness and the development of kidney, prostate, or bladder rocks.



Causes and Risk Factors of Alkaptonuria

Under normal circumstances, the body will damage down 2 substances developing healthy proteins (amino acids), specifically tyrosine and phenylalanine through a collection of chemical responses. But in alkaptonuria problems, the body cannot produce sufficient quantities of the homogentisate oxidase enzyme. The enzyme is had to damage down the outcomes of tyrosine metabolic process through homogentisate acid. Consequently, homogentisate acid builds up and becomes black or dark pigments in the body, while others are launched through pee.

The failure of the body to produce homogentisate oxidase enzymes is triggered by a mutation in the gene creating the enzyme, specifically the homogentisate 1,2-dioxygenase (HGD) gene. This condition is acquired autosomal recessive, which means that the mutation of the gene must be lowered from both new moms and dads triggering this condition, not simply one.

Medical diagnosis of Alkaptonuria

Medical diagnosis of alkaptonuria can be done if someone is thought of experiencing signs of this illness, such as pee, brownish or black when subjected to air. To be certain, the doctor can do a pee evaluation, particularly to see the presence of homogentisate acid in pee. Additionally, DNA tests were also carried bent on see if there was a mutation in the body's HGD gene.

Alkaptonuria therapy

Therapy measures need to be taken instantly when someone is identified with alkaptonuria. If this problem is detected while still a child, what can be done is to decrease the rate of illness by using a low-protein diet to decrease degrees of tyrosine and phenylalanine in the body. Additionally, doctors will also suggest the management of vitamin C to decrease the accumulation of acid homogentisates in bone and cartilage.

Another therapy that can be done is by giving a medication called nitisinone. Although previously there's no medication that can particularly overcome alkaptonuria, nitisinone can be offered to decrease the degrees of homogentisate acid in the body. Nitisinone is an inhibitor of enzymes that form homogentisate acid.

To overcome the signs or prevent problems that can be triggered by alkaptonuria, doctors will usually recommend clients to:

  • Take pain relievers and anti-inflammatory medications to treat joint discomfort.
  • Undergoing Physiotherapy is finished with the help of a device called transcutaneous electric nerve excitement (TENS) to earn the spinal cable nerve become numb so that the discomfort subsides.
  • Do mild exercise regularly. Alkaptonuria patients often experience joint discomfort or rigid joints. To prevent the seriousness and to assist enhance muscle mass and joints, clients need to do light exercise, such as swimming regularly. Another light exercise, such as yoga exercise and pilates can also be done. It's suggested to avoid exhausting exercise and be vulnerable to physical get in touches with, such as football or boxing, to prevent injury to the joints.
  • Psychological support. Alkaptonuria patients may experience stress and anxiousness or anxiety because of disturbing health and wellness problems throughout life. Therefore, psychological support is needed for clients and their families to have the ability to live it.



If alkaptonuria causes damage to various other joints or body organs, surgical treatment may be suggested. This treatment is performed in fifty percent of the situations of alkaptonuria patients over the age of 50 or 60 years. The kind of surgical treatment that's usually performed on the joint is hip or knee substitute surgical treatment. While the kind of surgical treatment on the heart body organ is typically done when the hardened heart shutoff is a heart shutoff substitute surgical treatment.

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