The success of dietary protein restriction in alkaptonuria patients is age-dependent
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
Alkaptonuria is characterized by an increased urinary excretion of homogentisic acid, pigmentation of cartilage and connective tissues, and ultimately the development of inflammatory arthropathy. Various diets low in protein have been designed to decrease homogentisic acid excretion and to prevent the ochronotic pigmentation and arthritic lesions. However, limited information is available on the long-term beneficial effects of these diets. We reviewed the medical records of 16 patients aged 3–27 years (4>18 years) to ascertain the age of diagnosis, growth, development, social behaviour, signs of complications and longitudinal dietary compliance. The diagnosis of alkaptonuria was made at an average age of 1.4 years (2 months–4 years); following the diagnosis all patients were prescribed a diet with a protein content of 1.5 g/kg per day. All patients showed normal growth and development, and no major complications of the disease. Behavioural problems associated with poor dietary compliance emerged as the main problem. Dietary compliance decreased progressively with age. The effect of dietary protein restriction in homogentisic acid excretion was studied by fixing the amounts of protein in the diet at 1 g/kg per day and 3.5–5 g/kg per day during 8 days. Twelve patients, aged 4–27 years, participated in the investigation. Protein restriction resulted in a significantly lower excretion of homogentisic acid in the urine of children younger than 12 years (p<0.01), whereas this effect was less obvious for adolescent and adult patients. The results suggest that restriction of protein intake may have a beneficial effect on alkaptonuric children; but continuation of this regimen to older age seems questionable and not practical.
- Bosacco SJ, Fye M, Finn CA (1991) Alkaptonuria and ochronosis. Orthopedics 14: 394-396.
- Duran M, Ketting D, Bruinvis L, Dorland L, Wadman SK, Bakkeren JAJM (1987) Urinary excretion of 2-methyl-2,3-butanediol and 2,3-pentanediol in patients with disorders of propionate and methylmalonate metabolism. Clin Chim Acta 165: 197-204.
- Gaines JJ (1989) The pathology of alkaptonuric ochronosis. Hum Pathol 20: 40-46.
- Konttinen YT, Hoikka V, Landtman M, et al (1989) Ochronosis: a report of a case and a review of literature. Clin Exp Rheumatol 7: 435-444.
- La Du BN, Zonnoni VG, Laster L, Seegmiller JE (1958) The nature of the defect in tyrosine metabolism in alkaptonuria. J Biol Chem 230: 251.
- Lustberg TJ, Schulman SD, Seegmiller JE (1970) Decreased binding of 14C-homogentisic acid induced by ascorbic acid in connective tissues of rats with experimental alkaptonuria. Nature 228: 770-771.
- Martin JP, Batkoff B (1987) Homogentisic acid autoxidation and oxygen radical generation: implications for the etiology of alkaptonuric patients. Free Radicals Biol Med 3: 241-250.
- Montagutelli X, Lalouette A, Coudé M, Kamoun P, Forest M, Guénet JL (1994) Aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Genomics 19: 9-11.
- O'Brien WM, La Du BN, Bunim JJ (1963) Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. Review of world literature (1584-1962). Am J Med 34: 813-838.
- Sealock RR, Galdston M, Steel JM (1940) Administration of ascorbic acid to an alkaptonuria patient. Proc Soc Exp Biol Med 44: 580-583.
- Wolff JA, Barshop B, Nyhan WL, et al (1989) Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 26: 140-144.
- The success of dietary protein restriction in alkaptonuria patients is age-dependent
Journal of Inherited Metabolic Disease
Volume 21, Issue 8 , pp 791-798
- Cover Date
- Print ISSN
- Online ISSN
- Kluwer Academic Publishers
- Additional Links
- Industry Sectors