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An autosomal recessive disease, in which there is reduced activity of homogentisic acid oxidase, so that homogentisic acid cannot be metabolised. Ochronosis (the presence of brown/black pigment), which is caused by abnormal accumulation of oxidised homogentisic acid, occurs in skin, connective tissue, and cartilage, including the cardiac valves.

Preoperative abnormalities

1. The urine becomes dark, from homogentisic aciduria, after exposure to air or alkali.There is bluish discoloration of nails, auricles and axillae, and brown pigmentation of the sclerae.

2. Musculoskeletal. Ochronosis of connective tissue and cartilage results in a degenerative arthritis.

3. Cardiovascular disease. Aortic stenosis and coronary artery disease have been reported (Vavuranakis et al 1998).

4. Genitourinary complications.

5. Diagnosis is made after detection of increased levels of homogentisic acid in the urine and plasma (normally not detected).

6. Treatment is with dietary restriction of protein and ascorbic acid.

Anaesthetic problems

1. A degenerative arthritis develops, and bone is more prone to fracture; disc prolapse (Reddy & Prasas 1998), and compression of spinal cord secondary to atlanto-axial arthropathy (Kusakabe et al 1995), can occur.

2. Failed epidural anaesthesia has been reported (Itoh et al 1993).


1. Assessment of cardiac disease.

2. Look for evidence of cervical myelopathy.


Itoh K, Itimata M, Matsumoto K et al 1993 Anesthesia for a patient with alkaptonuria. Hiroshima Journal ofAnesthesia 29: 329-32. Kragel AH, Lapa JA, Roberts WC 1990

Cardiovascular findings in alkaptonuric ochronosis. American Heart Journal 120:1460-3. Kusakabe N,Tsuzuki N, Sonada M 1995 Compression of the cervical cord due to alcaptonuric arthropathy of the atlanto-axial joint.A case report. Journal of Bone & Joint Surgery 77A: 274-7. Millea TP, Segal LS, Liss RG et al 1992 Spine fracture in ochronosis. Clinical Orthopaedics & Related Research 281:208-11. Reddy DR, PrasasVSS 1998 Alkaptonuria presenting as lumbar disc prolapse: case report and review of the literature. Spinal Cord 36: 523-4. Vavuranakis M,Triantafillidi H, Stefanadis C et al 1998 Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. Cardiology 90: 312-14.

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