ALKAPTONURIA GENETICS PDF

Listen There is no cure for alkaptonuria, but there is treatment for some individual signs and symptoms of the condition. Joint pain may be substantial in individuals with alkaptonuria, and close attention to pain control is usually necessary. Physical and occupational therapy can be important to promote muscle strength and flexibility. In general, however, the goal of joint replacement is pain relief rather than increased range of motion. Maintaining joint range of motion through moderate non-weight-bearing exercise such as swimming may have beneficial effects.

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Listen There is no cure for alkaptonuria, but there is treatment for some individual signs and symptoms of the condition. Joint pain may be substantial in individuals with alkaptonuria, and close attention to pain control is usually necessary.

Physical and occupational therapy can be important to promote muscle strength and flexibility. In general, however, the goal of joint replacement is pain relief rather than increased range of motion. Maintaining joint range of motion through moderate non-weight-bearing exercise such as swimming may have beneficial effects. Treatment of prostate stones and renal stones may include surgery.

You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

They may be able to refer you to someone they know through conferences or research efforts. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Listen Related diseases are conditions that have similar signs and symptoms.

A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnosis includes acute intermittent porphyria, rheumatoid arthritis, ankylosing spondylitis and osteoarthritis.

ASCE 38-02 PDF

Alcaptonuria

Signs and symptoms[ edit ] Intervertebral discs calcification due to ochronosis Patients with black bone disease are asymptomatic as children or young adults, but their urine may turn brown or even inky black if collected and left exposed to open air. The pain can be severe to the point that interferes with activities of daily living and may affect ability to work. Joint-replacement surgery hip and shoulder is often necessary at a relatively young age. Also, a propensity to developing kidney stones exists, and eventually also gallstones and stones in the prostate and salivary glands sialolithiasis can occur. All people carry in their DNA two copies one received from each parent of the gene HGD, which contains the genetic information to produce the enzyme homogentisate 1,2-dioxygenase HGD which can normally be found in numerous tissues in the body liver, kidney, small intestine, colon, and prostate. In people with alkaptonuria, both copies of the gene contain abnormalities that mean that the body cannot produce an adequately functioning enzyme.

GIMNASZTIKA JEGYZET PDF

An update on molecular genetics of Alkaptonuria (AKU).

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ANATOMIA DE LOS ANIMALES DOMESTICOS KONIG PDF

Alkaptonuria

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