Alcaptonuria – What is, Causes and Treatments that we need to know. In addition, Alcaptonuria is a rare disease caused by deficiency in amino acid metabolism , such as tyrosine or phenylalanine , leading to the accumulation of an acid in various regions of the body.
The Alkaptonuria manifests itself in childhood by color change of urine from yellow to dark blue or black, but other more serious symptoms may appear around 30 to 40 years.
Causes of Alcaptonuria:
The Alkaptonuria is caused by a gene mutation in his homogenized 1,2-dioxygenase (HGD). It is a self-recessive condition.
This means your parents must have the gene to pass the condition on to you.
Symptoms of Alcaptonuria may be:
- Dark , almost black urine ;
- Bluish ear wax;
- Black spots on the white part of the eye, around the ear and larynx ;
- Arthritis that causes joint pain and limited movement;
- Cartilage stiffness ;
- Kidney stone and prostate ;
- Heart problems .
Dark pigment can accumulate on the skin in the armpit and groin areas which, when perspiring, can pass into clothing. It is common for the individual to have difficulty breathing due to the process of rigidity of the costal cartilage and hoarseness due to the rigidity of the hyaline membrane.
Diagnosis of Alcaptonuria:
The Alkaptonuria is a condition that needs all the attention. Complications are diverse and quite worrying, so it is essential that the disease be detected as soon as possible in order to control the possible disorders .
The diagnosis of Alcaptonuria is usually clinical and based on the patient’s life history. The Alkaptonuria is transmitted a rare autosomal recessive condition often linked to populations with a high degree of consanguinity. Therefore, studying the patient’s history may help detect the disease.
Treatment of Alcaptonuria:
The Alkaptonuria has no cure, but treatment helps reduce symptoms and their consequences in patients.
The vitamin C (ascorbic acid), is recommended in patients with this disease as well as a dietary restriction of phenylalanine and tyrosine. This treatment has been shown to be effective in reducing brown pigment accumulation in cartilage and developing arthritis.
The treatment of the other symptoms of Alcaptonuria is through the use of analgesics , anti-inflammatory drugs , physical therapy, intra-articular infiltration with corticosteroids .