Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.

Abstract:

:Patients with alkaptonuria lack homogentisate 1,2-dioxygenase leading to retention of homogentistic acid (HGA) in body fluids and eventually to tissue deposition of oxidation products, giving rise to the clinical picture of ochronosis. Ascorbic acid is a known inhibitor of the enzyme which catalyses the oxidation of homogentisic acid (HGA) to the polymer with affinity for collagen and was used in the treatment of three siblings with alkaptonuria. Ascorbic acid 500 mg bid was administered for 12 months. Two of the siblings tolerated the treatment, and in one the symptoms improved, whereas in the other they worsened. Plasma and urinary levels of HGA were monitored with a new HPLC method. Ascorbic acid is not effective in the treatment of symptomatic ochronosis.

journal_name

Clin Exp Rheumatol

authors

Forslind K,Wollheim FA,Akesson B,Rydholm U

subject

Has Abstract

pub_date

1988-07-01 00:00:00

pages

289-92

issue

3

eissn

0392-856X

issn

1593-098X

journal_volume

6

pub_type

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